SNPMiner Trials by Shray Alag

NCT00511368 (37) NCT00460382 (36) NCT04504071 (35) NCT03783286 (33) NCT04172597 (32) NCT02404233 (29) NCT00959894 (28) NCT00706147 (28) NCT00121017 (28) NCT01685801 (27) NCT04513626 (26) NCT01736761 (26) NCT04495348 (24) NCT02673398 (23) NCT02499978 (22) NCT01605084 (21) NCT04254705 (21) NCT02069834 (21) NCT00939770 (18) NCT01792570 (18) NCT01199939 (18) NCT00356616 (18) NCT02728258 (17) NCT02707601 (17) NCT02770508 (16) NCT00711009 (16) NCT00630864 (16) NCT00491556 (15) NCT04085315 (15) NCT02616029 (15) NCT00830804 (15) NCT04681820 (15) NCT01170962 (14) NCT00984152 (14) NCT03953898 (14) NCT00727597 (14) NCT03212274 (14) NCT01369199 (13) NCT00337467 (13) NCT00098293 (13) NCT01368497 (13) NCT02159599 (13) NCT00424814 (12) NCT04432454 (12) NCT02527096 (12) NCT01849003 (12) NCT03781063 (12) NCT03683524 (11) NCT01614457 (11) NCT00460746 (11) NCT00993148 (11) NCT03061331 (11) NCT02494882 (11) NCT03068312 (11) NCT04453436 (11) NCT01521338 (10) NCT02725567 (10) NCT01614470 (10) NCT01423812 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NCT02554591 (5) NCT01501604 (5) NCT02716116 (5) NCT01136460 (5) NCT00187655 (5) NCT00350272 (5) NCT00837135 (5) NCT03202862 (5) NCT01707199 (5) NCT03839342 (5) NCT01323010 (4) NCT02248324 (4) NCT01698905 (4) NCT01737359 (4) NCT01306045 (4) NCT02804100 (4) NCT01456676 (4) NCT00588172 (4) NCT03434418 (4) NCT03593993 (4) NCT01804140 (4) NCT02882308 (4) NCT03497767 (4) NCT04106024 (4) NCT02716311 (4) NCT04405674 (4) NCT03599518 (4) NCT01675778 (4) NCT01604122 (4) NCT01297777 (4) NCT04519970 (4) NCT00705679 (4) NCT04147351 (4) NCT04129502 (4) NCT03976856 (4) NCT02335944 (4) NCT04625647 (4) NCT03948763 (4) NCT03255083 (4) NCT04002830 (4) NCT02635815 (4) NCT03066206 (4) NCT01331642 (4) NCT00557245 (4) NCT01922583 (4) NCT02893332 (4) NCT03592888 (4) NCT02257424 (4) NCT03874858 (4) NCT00017732 (4) NCT00187720 (4) NCT02593539 (4) NCT01185587 (4) NCT04439292 (4) NCT03884348 (4) NCT01309243 (4) NCT03209063 (4) NCT04160546 (4) NCT03292302 (4) NCT02418234 (4) NCT02535338 (3) NCT02192697 (3) NCT03410043 (3) NCT03845296 (3) NCT02914990 (3) NCT02113813 (3) NCT01532011 (3) NCT04340388 (3) NCT00962533 (3) NCT03856411 (3) NCT04049266 (3) NCT02973763 (3) NCT02926092 (3) NCT00271973 (3) NCT04256941 (3) NCT03812809 (3) NCT02954523 (3) NCT01784068 (3) NCT03446417 (3) NCT02841579 (3) NCT02025114 (3) NCT01288521 (3) NCT01385683 (3) NCT02279004 (3) NCT00998582 (3) NCT03111901 (3) NCT01352715 (3) NCT01619774 (3) NCT01045369 (3) NCT02246998 (3) NCT03969823 (3) NCT00895596 (3) NCT02398929 (3) NCT00724711 (3) NCT04029350 (3) NCT03737994 (3) NCT01443806 (3) NCT02629822 (3) NCT03463525 (3) NCT00710112 (3) NCT03623750 (3) NCT04283955 (3) NCT02743923 (3) NCT01016106 (3) NCT01259089 (3) NCT03971474 (3) NCT02917993 (3) NCT02368990 (3) NCT00279110 (3) NCT02485652 (3) NCT00312169 (3) NCT04541407 (3) NCT02769286 (3) NCT00747487 (3) NCT04267913 (3) NCT01429597 (3) NCT04023617 (3) NCT03790228 (3) NCT01759888 (3) NCT04429152 (3) NCT01810718 (3) NCT02725632 (3) NCT01090011 (3) NCT04544111 (3) NCT02926768 (3) NCT02981108 (3) NCT02459743 (3) NCT00654823 (3) NCT01037127 (3) NCT04439305 (3) NCT01028222 (3) NCT01542411 (3) NCT01031446 (3) NCT02726269 (3) NCT01892644 (3) NCT03260491 (3) NCT01802632 (3) NCT02720094 (3) NCT02630186 (3) NCT01627132 (3) NCT02690675 (3) NCT01013506 (3) NCT04252339 (3) NCT02496663 (3) NCT03386955 (3) NCT03394118 (3) NCT04212702 (3) NCT01754025 (3) NCT01160276 (3) NCT00121979 (3) NCT03228277 (3) NCT04351555 (3) NCT01243346 (3) NCT04510415 (3) NCT02796274 (3) NCT02774005 (3) NCT02064491 (3) NCT04233021 (3) NCT03799601 (3) NCT00260260 (3) NCT02094261 (3) NCT04245085 (3) NCT03058094 (3) NCT01282151 (3) NCT02520778 (3) NCT03161808 (3) NCT04181060 (3) NCT01342679 (3) NCT01443273 (3) NCT01593254 (3) NCT04433481 (3) NCT02529995 (3) NCT03502850 (3) NCT02771314 (3) NCT03823807 (3) NCT03270527 (3) NCT02688881 (3) NCT01005602 (3) NCT02442349 (3) NCT02684591 (2) NCT02282267 (2) NCT03381430 (2) NCT02178397 (2) NCT03608215 (2) NCT02603107 (2) NCT03370770 (2) NCT03322696 (2) NCT03333343 (2) NCT00525473 (2) NCT03127449 (2) NCT01781026 (2) NCT02503722 (2) NCT00975871 (2) NCT03964233 (2) NCT03388099 (2) NCT02317016 (2) NCT03845270 (2) NCT03519958 (2) NCT03918304 (2) NCT02151721 (2) NCT02777658 (2) NCT01016444 (2) NCT02971501 (2) NCT03101254 (2) NCT03178617 (2) NCT01774721 (2) NCT03574753 (2) NCT01357655 (2) NCT01766713 (2) NCT02097225 (2) NCT00658164 (2) NCT03622593 (2) NCT02571036 (2) NCT00969137 (2) NCT00834665 (2) NCT02026011 (2) NCT03622580 (2) NCT03543683 (2) NCT01143493 (2) NCT03671538 (2) NCT04028778 (2) NCT00324961 (2) NCT01915576 (2) NCT02157883 (2) NCT01387022 (2) NCT03864042 (2) NCT03235245 (2) NCT03469960 (2) NCT02795884 (2) NCT04687241 (2) NCT00005541 (2) NCT01242813 (2) NCT03960645 (2) NCT00643058 (2) NCT03443336 (2) NCT02992860 (2) NCT02281760 (2) NCT02201602 (2) NCT04310007 (2) NCT04309019 (2) NCT03720665 (2) NCT00909532 (2) NCT00411944 (2) NCT01604681 (2) NCT01245062 (2) NCT00270231 (2) NCT03256136 (2) NCT03973918 (2) NCT00302692 (2) NCT00125281 (2) NCT02163733 (2) NCT02110407 (2) NCT00475176 (2) NCT03196882 (2) NCT01572818 (2) NCT02556333 (2) NCT04268550 (2) NCT02433717 (2) NCT03428126 (2) NCT01153763 (2) NCT02609776 (2) NCT01420211 (2) NCT03556176 (2) NCT03872440 (2) NCT01405079 (2) NCT03382795 (2) NCT02991950 (2) NCT00013598 (2) NCT03455764 (2) NCT02422628 (2) NCT03831932 (2) NCT03766490 (2) NCT02580474 (2) NCT00499577 (2) NCT02444884 (2) NCT01775943 (2) NCT03544814 (2) NCT01310036 (2) NCT01027663 (2) NCT01928160 (2) NCT01244438 (2) NCT00007150 (2) NCT04462081 (2) NCT02297425 (2) NCT02086071 (2) NCT01050400 (2) NCT03060590 (2) NCT01819428 (2) NCT02709668 (2) NCT02411448 (2) NCT03878719 (2) NCT04622072 (2) NCT04479306 (2) NCT03377023 (2) NCT01378026 (2) NCT03239145 (2) NCT04511533 (2) NCT00226551 (2) NCT02191891 (2) NCT04586270 (2) NCT04669535 (2) NCT04545710 (2) NCT02120222 (2) NCT02738593 (2) NCT00831272 (2) NCT04469543 (2) NCT00573495 (2) NCT04158544 (2) NCT00904150 (2) NCT02110056 (2) NCT02856893 (2) NCT02110043 (2) NCT02182986 (2) NCT04179890 (2) NCT00063232 (2) NCT02197234 (2) NCT03121235 (2) NCT01532089 (2) NCT03887169 (2) NCT02268864 (2) NCT01963845 (2) NCT00866736 (2) NCT03991013 (2) NCT02500927 (2) NCT04657991 (2) NCT02228382 (2) NCT02689570 (2) NCT01513785 (2) NCT02463435 (2) NCT03351361 (2) NCT04527549 (2) NCT03424759 (2) NCT02197247 (2) NCT02321046 (2) NCT04272034 (2) NCT04646824 (2) NCT04027647 (2) NCT02364609 (2) NCT02759835 (2) NCT04349865 (2) NCT00068159 (2) NCT00418015 (2) NCT04310397 (2) NCT03088176 (2) NCT03867175 (2) NCT00339209 (2) NCT00011258 (2) NCT01288430 (2) NCT01616199 (2) NCT03603262 (2) NCT03071705 (2) NCT00969930 (2) NCT00772408 (2) NCT02743468 (2) NCT00277342 (2) NCT04248829 (2) NCT01767454 (2) NCT00933127 (2) NCT03317873 (2) NCT03392246 (2) NCT01909453 (2) NCT03523104 (2) NCT00085917 (2) NCT02507921 (2) NCT03781752 (2) NCT03828422 (2) NCT02193282 (2) NCT03195452 (2) NCT04657289 (2) NCT02294487 (2) NCT01325441 (2) NCT02511106 (2) NCT02997501 (2) NCT04184921 (2) NCT00625092 (2) NCT01657786 (2) NCT01415011 (2) NCT02629523 (2) NCT01718847 (2) NCT02818023 (2) NCT00577707 (2) NCT01943422 (2) NCT00116636 (2) NCT04429542 (2) NCT01841463 (2) NCT03865511 (2) NCT03205267 (2) NCT01218477 (2) NCT02881320 (2) NCT01897480 (2) NCT02810990 (2) NCT04189757 (2) NCT01951001 (2) NCT04254939 (2) NCT03207867 (2) NCT00780949 (2) NCT03355768 (2) NCT00817089 (2) NCT02143466 (2) NCT04499053 (2) NCT01907776 (2) NCT00909727 (2) NCT01562028 (2) NCT03737253 (2) NCT00441974 (2) NCT02155465 (2) NCT04586335 (2) NCT00661999 (2) NCT02705339 (2) NCT04006340 (2) NCT04553887 (2) NCT04645225 (2) NCT03852290 (2) NCT02183922 (2) NCT03970239 (2) NCT00294372 (2) NCT03250676 (2) NCT03792074 (2) NCT00671892 (2) NCT00689182 (2) NCT00106379 (2) NCT01947023 (2) NCT00509652 (2) NCT03683251 (2) NCT02039986 (2) NCT03515837 (2) NCT04081688 (2) NCT03190005 (2) NCT01584648 (2) NCT02292654 (2) NCT03992456 (2) NCT03133546 (2) NCT01485809 (2) NCT01266967 (2) NCT04644315 (2) NCT02909712 (2) NCT00062764 (2) NCT01776684 (2) NCT03042221 (2) NCT01940809 (2) NCT04675008 (2) NCT01161537 (2) NCT01154816 (2) NCT01175759 (2) NCT01199731 (2) NCT02788058 (2) NCT03130452 (2) NCT04687423 (2) NCT01772732 (2) NCT02631447 (2) NCT02525692 (2) NCT02526537 (2) NCT03513666 (2) NCT02027961 (2) NCT03106779 (2) NCT04106544 (2) NCT04258943 (2) NCT00165984 (2) NCT00977470 (2) NCT02092974 (2) NCT03975231 (2) NCT03586453 (2) NCT01998295 (2) NCT02021305 (2) NCT03135197 (2) NCT00432016 (2) NCT04636437 (2) NCT03004625 (2) NCT03851445 (2) NCT04031898 (2) NCT04201418 (2) NCT01911507 (2) NCT03539224 (2) NCT01978236 (2) NCT00866177 (2) NCT00320879 (2) NCT00044304 (2) NCT01999179 (2) NCT00977730 (2) NCT02491775 (2) NCT00212147 (2) NCT02040064 (2) NCT00489385 (2) NCT01713023 (2) NCT04122729 (2) NCT03994393 (2) NCT02438722 (2) NCT02762448 (2) NCT00071903 (2) NCT00626223 (2) NCT01193829 (2) NCT03239340 (2) NCT02991274 (2) NCT02811354 (2) NCT03416530 (2) NCT02522988 (2) 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NCT03678506 (1) NCT02146365 (1) NCT04310943 (1) NCT02619955 (1) NCT02934139 (1) NCT00400387 (1) NCT00375219 (1) NCT00149305 (1) NCT03520946 (1) NCT02787447 (1) NCT04501614 (1) NCT03166631 (1) NCT04213313 (1) NCT02078531 (1) NCT02349048 (1) NCT02981784 (1) NCT04636593 (1) NCT01647711 (1) NCT03231722 (1) NCT03576937 (1) NCT04412070 (1) NCT00554866 (1) NCT03151161 (1) NCT01817166 (1) NCT02220855 (1) NCT02512627 (1) NCT04591197 (1) NCT03402048 (1) NCT04500704 (1) NCT02323724 (1) NCT01166126 (1) NCT03029858 (1) NCT04317599 (1) NCT00300573 (1) NCT00809211 (1) NCT01393730 (1) NCT02318368 (1) NCT02228369 (1) NCT04500717 (1) NCT01074398 (1) NCT03134131 (1) NCT02455167 (1) NCT01004497 (1) NCT02073279 (1) NCT02117817 (1) NCT00323687 (1) NCT01605981 (1) NCT01371955 (1) NCT04147767 (1) NCT04144257 (1) NCT03490123 (1) NCT04423185 (1) NCT02625337 (1) NCT03567629 (1) NCT03360929 (1) NCT00109278 (1) NCT04108156 (1) NCT02132598 (1) NCT00542451 (1) NCT01587573 (1) NCT00868465 (1) NCT01494402 (1) 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SNPMiner SNPMiner Trials (Home Page)


Report for Clinical Trial NCT01016106

Developed by Shray Alag, 2020-2021.
SNP Clinical Trial Gene

Genetic Screening for Filaggrin Mutation in Atopic Dermatitis and Ichthyosis Vulgaris in the African American Population

The investigators' primary objective is to identify common and rare mutations in the filaggrin gene in African American patients with a diagnosis of atopic dermatitis and ichthyosis vulgaris. Atopic dermatitis, or eczema, is a common, chronic, relapsing and remitting problem in many children and affects 10-20% of the pediatric population. Itch is a predominant feature of this disease and is quite disruptive to daily activities of life. In addition to itch, it is characterized by markedly dry skin, small red bumps that may have fluid. Ichthyosis vulgaris is characterized by extremely dry, scaly skin with a fine white scale and increased amounts of lines noted on the palms. Filaggrin is a protein that is essential for the skin to function properly as a barrier and found to be mutated in some European patients with ichthyosis vulgaris and atopic dermatitis. This association has not been looked at in the African American population. Genomic DNA (gDNA) will be purified from buccal swabs using commercially available kits and analyzed.

NCT01016106 Atopic Dermatitis Ichthyosis Vulgaris
MeSH:Dermatitis, Atopic Ichthyosis Ichthyosis, Lamellar Ichthyosis Vulgaris Dermatitis Eczema
HPO:Atopic dermatitis Congenital nonbullous ichthyosiform erythroderma Eczema Eczematoid dermatitis Ichthyosis Inflammatory abnormality of the skin

1 Interventions

Name: Buccal Swab

Description: During a single visit, a subject data collection form will be completed and DNA will be extracted from samples (buccal swabs) and then analyzed at IBT laboratories in Lenexa, Kansas.
Type: Genetic
Group Labels: 2

AA patients (controls) AA pts AD and IV


Primary Outcomes

Description: Buccal swab samples were obtained from each subject. Deoxyribonucleic acid (DNA) was purified from buccal swabs (IsoHelix Swabs, BocaScientific, Boca Raton, FL) and quantified by ultraviolet spectrophotometry. Purified genomic DNA and controls were amplified by polymerase chain reaction (PCR) from three different regions of FLG exon 3 with three primer sets. PCR products were analyzed by electrophoresis, purified (Qiaquick, Qiagen, Valencia, CA), and subjected to duplicate cycle sequencing reactions using ABI BigDye v3.1 reagents (Applied Biosystems, Carlsbad, CA). Labeled sequencing products were purified for capillary electrophoresis (ABI3730 or ABI3130 sequencer with POP7 polymer), and sequence results were examined using ABI SeqScape software. All nucleotide changes were noted, including 30 single nucleotide polymorphism (SNPs) in the population tested, the most common of which were coding changes at T454A, H2507Q, and G2545R, and silent change at nucleotide t2508c.

Measure: Heterozygous for Filaggrin (FLG) Null Mutations

Time: 1 month

Purpose: Diagnostic

Allocation: Non-Randomized

Single Group Assignment


There are 3 SNPs

SNPs


1 G2545R

All nucleotide changes were noted, including 30 single nucleotide polymorphism (SNPs) in the population tested, the most common of which were coding changes at T454A, H2507Q, and G2545R, and silent change at nucleotide t2508c.. Inclusion Criteria: - Age greater than 6 months - Affected subjects: Must be African American and have a diagnosis of both atopic dermatitis or eczema as well as ichthyosis vulgaris - Control subjects: Must be healthy African American subjects - Must be willing to not apply emollients for 24 hours prior to visit. --- T454A --- --- H2507Q --- --- G2545R ---


2 H2507Q

All nucleotide changes were noted, including 30 single nucleotide polymorphism (SNPs) in the population tested, the most common of which were coding changes at T454A, H2507Q, and G2545R, and silent change at nucleotide t2508c.. Inclusion Criteria: - Age greater than 6 months - Affected subjects: Must be African American and have a diagnosis of both atopic dermatitis or eczema as well as ichthyosis vulgaris - Control subjects: Must be healthy African American subjects - Must be willing to not apply emollients for 24 hours prior to visit. --- T454A --- --- H2507Q ---


3 T454A

All nucleotide changes were noted, including 30 single nucleotide polymorphism (SNPs) in the population tested, the most common of which were coding changes at T454A, H2507Q, and G2545R, and silent change at nucleotide t2508c.. Inclusion Criteria: - Age greater than 6 months - Affected subjects: Must be African American and have a diagnosis of both atopic dermatitis or eczema as well as ichthyosis vulgaris - Control subjects: Must be healthy African American subjects - Must be willing to not apply emollients for 24 hours prior to visit. --- T454A ---



HPO Nodes


HPO:
Protein Mutations 4
G2545R H2507Q T454A V66M
SNP 1
rs6265
Protein Mutations 3
G2545R H2507Q T454A
SNP 0
Protein Mutations 4
G2545R H2507Q T454A V66M
SNP 1
rs6265
Protein Mutations 0
SNP 0
Protein Mutations 3
G2545R H2507Q T454A
SNP 0
HP:0011123: Inflammatory abnormality of the skin
Genes 508
PSMB4 ALOXE3 ABCA12 NFE2L2 COL7A1 NFKB2 TREX1 CACNA1G DHCR7 CASP8 COL7A1 CD247 TRAF6 KRT16 PSENEN SPINK5 IFNG KIT ARVCF EGFR LAMA3 HLA-C JAK3 ZNF341 RREB1 LMBRD1 GJC2 NLRP3 HPGD GNA11 BTK BTNL2 PEPD PIK3CD TGM1 HLA-DPA1 RAC1 KRT10 GJB6 ZAP70 H6PD KRT1 MRTFA ABCA12 CYP4F22 TRAF3IP2 WAS NLRP3 GJB2 CYBC1 TGM1 RAG1 TARS1 SMARCA2 TTC7A CLEC7A HIRA FLI1 GP1BB MORC2 BRAF TGM1 FERMT3 SEC24C EXTL3 MCCC2 IL36RN PAH PIGA HLCS CYBA HLA-DPB1 NLRP12 SIK3 HPGD FOXP3 SLC30A2 ABCA12 AP3B1 LIPN CD28 CASP10 CARD14 TCF3 LMBRD1 IL17RA NOD2 LACC1 SHOC2 IL10RA WNT4 IL7 TGM5 CTLA4 ADAMTS3 PAPSS2 DOCK8 HLA-B KRT14 PCCA LIG4 BLM PLA2G7 RNU4ATAC KNSTRN KDF1 GJC2 KIT SMARCAD1 ZNF750 TNFRSF1B PTPN22 ERCC2 IL7R KRT10 FECH CHST14 CIITA KIT STX11 MEFV LIG4 DNAJC21 IL2RA ALOXE3 ENPP1 ACADVL IKBKG PRTN3 SP110 TKT RFX5 EPB42 MEFV NOD2 NOD2 GJA1 FCGR2B RAG1 MVK CTLA4 TREX1 ZAP70 ECM1 MSMO1 SMARCC2 ALOX12B IFIH1 CCBE1 TFRC NFKB1 GJB4 TAF1 NLRP3 USP8 BTD DOCK8 LACC1 TCIRG1 CDK10 STING1 FLI1 ESR1 EDA STAT1 AIRE SRP54 MBTPS2 GATA3 MYD88 RMRP HLA-DRB1 GPR101 C4A DNAJC21 AP1B1 BTK PDGFRA CYP4F22 HPGD RAC1 MEFV CCBE1 RBCK1 ADA RNASEH2B PRMT7 PSMB9 CTSC TNFAIP3 PRF1 SLC4A1 STAT1 MBTPS2 MIF TGM1 SPP1 MYD88 LBR NCF2 IL17F FOXP3 TMC6 CSTA FGFR2 IRF2BP2 CTLA4 SDHA RBP4 RAG1 SMARCA2 KANSL1 SBDS CARD14 RFXAP GJB2 IL6ST PTPN22 ACP5 XIAP ESR1 TTC7A UROS RNASEH2A IL2RG SPTB POLR3A BTK KRT5 DNASE1L3 KRT1 FLT4 TP63 LRRC8A IL12A-AS1 SCNN1B LPIN2 C5 EPG5 LBR MS4A2 ANK1 CTLA4 IL12A GFI1 KANSL1 TP63 NIPAL4 IL17RC POMP MYSM1 SLCO2A1 DSE SDHB TMC8 LYZ NLRP3 CHD7 DSG1 NSUN2 FERMT1 NCF4 B2M SRP54 HLCS WIPF1 LYST MEIS2 SLC39A4 GATA1 EBP POLE MNX1 CDH23 ITGB4 SLC29A3 VEGFC TRPM4 TNFRSF1A DDX41 RAG2 JAK1 PGM3 SULT2B1 JMJD1C SDR9C7 MSN NIPAL4 HYOU1 TBX1 MYSM1 IL10 TBX1 GINS1 NCF4 IL4R COX4I2 RFXANK WIPF1 KRT1 NCF2 TNFRSF1B MPLKIP FOXP1 PSTPIP1 AGA LAMC2 RAG2 FECH RNASEH2C IL17F NCSTN DCLRE1C WAS PEPD IL6 NCF1 CD3D ERCC3 ERCC4 PSMB8 IL7R CTSC STAT3 SH3PXD2B STAT4 SPTA1 IL17RA SAMHD1 IGLL1 PSEN1 COL7A1 SLC6A19 CERS3 NSUN2 TRAF3IP2 TBX1 RNF113A IGHM CD79A PIK3R1 PIK3CA KRT10 FAM111B KDSR SCNN1G ADAM17 CD79B LRRC32 KRT17 BCL11B IVNS1ABP HLA-DRB1 CYBB KRT5 ERCC2 CD3E PTPRC IL23R SRD5A3 TEK FLG SPINK5 CYBA CARD11 CD3G LSS TREX1 CYBB IL10RB LPIN2 STAT3 CLEC7A ITGA6 PGM3 MBL2 STAT3 RTTN SREBF1 HDAC4 CARD9 RFX5 CHST14 DCLRE1C TLR4 MPDU1 NCF1 CYBC1 FGA SUOX IL2RG MEFV GJB3 EGFR OTULIN WAS CASR WNT4 CD247 CFI SAMHD1 UFD1 NSMCE3 RFXAP TREX1 CARMIL2 ABCC6 TNFRSF1A MEFV SHANK3 STAT4 IL6R LAMB3 GTF2H5 APOA1 GJB2 IL1RN IRAK1 KANSL1 GTF2H5 IFIH1 FAT4 RIPK1 RNASEH2C CIITA CCR1 KIF11 ALOX12B UBAC2 UBE2A RNU4ATAC AIP XYLT1 PNPLA1 RBM8A FAS NLRC4 HLA-DQB1 NEK9 HSPA9 PCCB MTHFD1 CTLA4 PSTPIP1 KRT1 EDARADD TGFB1 NR3C1 ERAP1 WDR1 CD28 PRKACA ADA2 CIB1 LYST TBCK ADAR POR ELANE STAT5B MBTPS2 PNPLA1 RFXANK EFL1 KLRC4 FOXC2 DNASE1 MMP1 KRT9 RRAS2 HLA-DRB1 AIRE LIG4 NFKB2 AK2 DCLRE1C NAXD SCNN1A LHCGR HSD3B2 LRBA ELANE GTF2E2 SH3PXD2B COMT EDAR FOXN1 BLNK IL2RG IL7R ERCC3 NIPAL4 ERCC2 RAG2 AP1S3 SDHC ADA FCGR2A AUTS2 PAH ERCC5 CTSB BTNL2 ADAM17 KDF1 HLA-B BTD MVK
Protein Mutations 4
G2545R H2507Q T454A V66M
SNP 1
rs6265