View Mode Credible Sets
LD Summary (0.6 r2 threshold, 1KGp3:EUR)
Summary (IFIH1 TSS Ensembl 93:chr2:162,318,703)
Association Results
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Association Details
1st Author | Year | Journal/Site/File | Title/Description |
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pQTL Results
Display Name | Phenotype | Source | Year | Index Variant |
Allele | Pvalue | OR/Beta | Credible Set | Show | Curator Comment |
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pQTL Details
1st Author | Year | Journal/Site/File | Title/Description |
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eQTL Results
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Variants of Interest
LD Summary | Name | Non-Reference Allele | Location | Gene | Protein Change | Polyphen | f(NFE) | f(Max) |
---|---|---|---|---|---|---|---|---|
rs141572054 | T | 162,359,145 | GCA | p.Arg186Ter | 0.002 | 0.012 | ||
rs146161584 | G | 162,359,091 | GCA | p.Ser168Gly | possibly damaging | 0.000 | 0.010 | |
rs758193923 | T | 162,352,402 | GCA | p.Tyr86Phe | probably damaging | 0.000 | 0.001 | |
rs17783344 | G | 162,352,383 | GCA | p.Ser80Ala | benign | 0.126 | 0.209 | |
rs754396914 | C | 162,352,371 | GCA | p.Cys76Arg | probably damaging | 0.000 | 0.001 | |
rs79565841 | T | 162,352,367 | GCA | p.Gln74His | probably damaging | 0.004 | 0.004 | |
rs545281061 | - | 162,347,739 | GCA | p.Gln64ArgfsTer14 | 0.000 | 0.004 | ||
rs774170639 | A | 162,347,656 | GCA | p.Asp36Asn | benign | 0.000 | 0.001 | |
rs1403164634 | G | 162,318,102 | IFIH1 | p.Gly69Ala | benign | 0.000 | 0.001 | |
rs147278787 | A | 162,318,079 | IFIH1 | p.Arg77Trp | possibly damaging | 0.001 | 0.003 | |
rs760903088 | T | 162,317,977 | IFIH1 | p.His111Asn | benign | 0.000 | 0.001 | |
rs146721166 | C | 162,317,872 | IFIH1 | p.Ile146Val | benign | 0.000 | 0.005 | |
rs74162075 | C | 162,310,909 | IFIH1 | p.Asn160Asp | probably damaging | 0.001 | 0.001 | |
rs1405437835 | T | 162,310,809 | IFIH1 | p.Leu193His | probably damaging | 0.000 | 0.001 | |
rs749404410 | T | 162,306,787 | IFIH1 | p.Pro231Thr | benign | 0.000 | 0.001 | |
rs778501846 | C | 162,306,749 | IFIH1 | p.Asn243Lys | benign | 0.000 | 0.001 | |
rs183412282 | G | 162,288,189 | IFIH1 | p.Leu347Phe | probably damaging | 0.000 | 0.005 | |
rs72650664 | C | 162,288,184 | IFIH1 | p.Lys349Arg | benign | 0.002 | 0.002 | |
rs150317197 | T | 162,288,164 | IFIH1 | p.Pro356Thr | benign | 0.001 | 0.001 | |
rs117608083 | C | 162,288,137 | IFIH1 | p.Lys365Glu | probably damaging | 0.000 | 0.011 | |
rs140125523 | T | 162,288,134 | IFIH1 | 0.000 | 0.001 | |||
rs140977021 | T | 162,282,575 | IFIH1 | p.Val366Glu | probably damaging | 0.000 | 0.004 | |
rs145520044 | T | 162,282,551 | IFIH1 | p.Arg374His | benign | 0.001 | 0.001 | |
rs10930046 | C | 162,281,473 | IFIH1 | p.His460Arg | benign | 0.015 | 0.422 | |
rs147000317 | A | 162,281,371 | IFIH1 | p.Gly494Val | probably damaging | 0.000 | 0.007 | |
rs535192485 | C | 162,281,336 | IFIH1 | p.Ile506Val | probably damaging | 0.000 | 0.002 | |
rs35337543 | G | 162,279,995 | IFIH1 | 0.009 | 0.010 | |||
rs756286361 | C | 162,278,298 | IFIH1 | p.Met558Val | probably damaging | 0.000 | 0.001 | |
rs765060493 | T | 162,278,269 | IFIH1 | p.Met567Ile | benign | 0.000 | 0.001 | |
rs138057665 | C | 162,278,247 | IFIH1 | p.Thr575Ala | possibly damaging | 0.000 | 0.005 | |
rs553669430 | T | 162,278,206 | IFIH1 | p.Ala589SerfsTer21 | 0.000 | 0.006 | ||
rs145792185 | T | 162,277,693 | IFIH1 | p.Ala589Asp | probably damaging | 0.000 | 0.002 | |
rs1303348838 | G | 162,277,669 | IFIH1 | p.Glu597Ala | benign | 0.000 | 0.001 | |
rs1356023008 | T | 162,277,595 | IFIH1 | p.Ala622Thr | probably damaging | 0.000 | 0.001 | |
rs35744605 | A | 162,277,580 | IFIH1 | p.Glu627Ter | 0.005 | 0.005 | ||
rs550930413 | A | 162,277,560 | IFIH1 | p.Glu633Asp | probably damaging | 0.000 | 0.004 | |
rs144274375 | T | 162,277,494 | IFIH1 | p.Asp655Glu | benign | 0.000 | 0.002 | |
rs376074455 | A | 162,277,463 | IFIH1 | p.Pro666Ser | benign | 0.000 | 0.001 | |
rs773033563 | - | 162,277,443 | IFIH1 | p.Asp673IlefsTer5 | 0.000 | 0.007 | ||
rs569337014 | - | 162,277,436 | IFIH1 | p.Arg674PhefsTer3 | 0.000 | 0.002 | ||
rs1190347967 | - | 162,276,926 | IFIH1 | p.Arg689GlyfsTer13 | 0.000 | 0.001 | ||
rs376420466 | G | 162,276,924 | IFIH1 | p.Arg689Ser | benign | 0.000 | 0.001 | |
rs72650663 | A | 162,276,886 | IFIH1 | p.Thr702Ile | benign | 0.003 | 0.007 | |
rs185928139 | G | 162,276,876 | IFIH1 | p.Arg705Ser | probably damaging | 0.000 | 0.003 | |
rs766238091 | A | 162,276,799 | IFIH1 | p.Ala731Val | possibly damaging | 0.000 | 0.001 | |
rs201142986 | T | 162,276,759 | IFIH1 | p.Phe744Leu | probably damaging | 0.000 | 0.004 | |
rs200389061 | T | 162,276,752 | IFIH1 | p.Val747Ile | benign | 0.000 | 0.013 | |
rs778910754 | - | 162,276,734 | IFIH1 | p.His753IlefsTer2 | 0.000 | 0.001 | ||
rs759430873 | - | 162,276,692 | IFIH1 | p.Thr767HisfsTer17 | 0.000 | 0.001 | ||
rs148369169 | T | 162,273,887 | IFIH1 | p.Ala788Thr | probably damaging | 0.000 | 0.005 | |
rs778200491 | A | 162,273,883 | IFIH1 | p.Thr789Ile | probably damaging | 0.000 | 0.001 | |
rs3747517 | C | 162,272,314 | IFIH1 | p.His843Arg | benign | 0.726 | 0.779 | |
rs35667974 | C | 162,268,127 | IFIH1 | p.Ile923Val | possibly damaging | 0.017 | 0.023 | |
rs140562355 | T | 162,268,109 | IFIH1 | p.Val929Ile | probably damaging | 0.000 | 0.005 | |
rs35732034 | T | 162,268,086 | IFIH1 | 0.006 | 0.013 | |||
rs1990760 | T | 162,267,541 | IFIH1 | p.Ala946Thr | benign | 0.619 | 0.619 | |
rs116508532 | C | 162,267,516 | IFIH1 | p.Tyr954Cys | probably damaging | 0.000 | 0.001 | |
rs144455277 | C | 162,267,514 | IFIH1 | p.Gln955Glu | benign | 0.001 | 0.013 | |
rs74162090 | A | 162,267,316 | IFIH1 | p.Val988Leu | possibly damaging | 0.000 | 0.002 | |
rs528639734 | T | 162,267,242 | IFIH1 | p.Asn1012Lys | benign | 0.000 | 0.001 | |
rs76564309 | G | 162,242,973 | FAP | p.Phe9Ser | benign | 0.000 | 0.014 | |
rs201151040 | A | 162,242,961 | FAP | p.Thr13Ile | benign | 0.000 | 0.005 | |
rs139492630 | T | 162,225,536 | FAP | p.Leu78Ile | benign | 0.000 | 0.002 | |
rs149591141 | G | 162,223,651 | FAP | p.Tyr124His | benign | 0.001 | 0.001 | |
rs185902464 | A | 162,219,893 | FAP | p.Pro149Leu | benign | 0.000 | 0.004 | |
rs78722278 | G | 162,219,117 | FAP | p.Phe185Leu | benign | 0.008 | 0.010 | |
rs62001031 | A | 162,218,114 | FAP | p.Leu212Phe | possibly damaging | 0.000 | 0.013 | |
rs79793562 | A | 162,218,062 | FAP | p.Thr229Met | probably damaging | 0.000 | 0.014 |
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Functional Variants Details
1st Author | Year | Journal/Site/File | Title/Description |
---|---|---|---|
Gorman JA | 2017 | Nat. Immunol. | The A946T variant of the RNA sensor IFIH1 mediates an interferon program that limits viral infection but increases the risk for autoimmunity. |
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Expression Data Details
1st Author | Year | Journal/Site/File | Title/Description |
---|---|---|---|
GTEx Consortium | 2015 | Science | Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans. |
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Protein and Structure Chemistry Details
1st Author | Year | Journal/Site/File | Title/Description |
---|---|---|---|
Wu B | 2013 | Cell | Structural basis for dsRNA recognition, filament formation, and antiviral signal activation by MDA5. |
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Clinical Results
Phenotype/Gene Associations
Phenotype | Gene | Source | Curator Comment |
---|---|---|---|
Aicardi-Goutieres syndrome 7 | IFIH1 | MIM morbid | |
SINGLETON-MERTEN SYNDROME 1 | IFIH1 | MIM morbid |
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Phenotype/Allele Associations
Phenotype | Variant | Unaudited Risk Allele |
Clinical Signficance | Transcript-Impact Genes | Source |
---|---|---|---|---|---|
Aicardi-Goutieres syndrome 7 | rs587777576 | A | pathogenic | IFIH1 | ClinVar |
Aicardi-Goutieres syndrome 7 | rs587777448 | 0004 | IFIH1 | OMIM | |
Aicardi-Goutieres syndrome 7 | rs587777447 | 0003 | IFIH1 | OMIM | |
Aicardi-Goutieres syndrome 7 | rs587777575 | T | pathogenic | IFIH1 | ClinVar |
Aicardi-Goutieres syndrome 7 | rs672601336 | T | pathogenic | IFIH1 | ClinVar |
Aicardi-Goutieres syndrome 7 | rs587777446 | 0002 | IFIH1 | OMIM | |
Aicardi-Goutieres syndrome 7 | rs587777446 | T | pathogenic | IFIH1 | ClinVar |
Aicardi-Goutieres syndrome 7 | rs587777445 | 0001 | IFIH1 | OMIM | |
Aicardi-Goutieres syndrome 7 | rs587777449 | A | pathogenic | IFIH1 | ClinVar |
Aicardi-Goutieres syndrome 7 | rs587777447 | C | pathogenic | IFIH1 | ClinVar |
Aicardi-Goutieres syndrome 7 | rs587777576 | 0008 | IFIH1 | OMIM | |
Aicardi-Goutieres syndrome 7 | rs587777448 | A | pathogenic | IFIH1 | ClinVar |
Aicardi-Goutieres syndrome 7 | rs587777445 | T | pathogenic | IFIH1 | ClinVar |
Aicardi-Goutieres syndrome 7 | rs587777449 | 0006 | IFIH1 | OMIM | |
Aicardi-Goutieres syndrome 7 | rs587777575 | 0007 | IFIH1 | OMIM | |
Aicardi-Goutieres syndrome 7 | rs672601336 | 0005 | IFIH1 | OMIM | |
Malignant tumor of prostate | rs193920867 | G | uncertain significance | IFIH1 | ClinVar |
SINGLETON-MERTEN SYNDROME 1 | rs41399348 | T | benign | IFIH1 | ClinVar |
SINGLETON-MERTEN SYNDROME 1 | rs74162087 | T | uncertain significance | IFIH1 | ClinVar |
SINGLETON-MERTEN SYNDROME 1 | rs6748554 | G | benign | IFIH1 | ClinVar |
SINGLETON-MERTEN SYNDROME 1 | rs147175706 | G | likely benign | IFIH1 | ClinVar |
SINGLETON-MERTEN SYNDROME 1 | rs140562355 | T | benign | IFIH1 | ClinVar |
SINGLETON-MERTEN SYNDROME 1 | rs367851471 | T | uncertain significance | IFIH1 | ClinVar |
SINGLETON-MERTEN SYNDROME 1 | rs143870870 | C | benign | IFIH1 | ClinVar |
SINGLETON-MERTEN SYNDROME 1 | rs145187664 | A | benign | IFIH1 | ClinVar |
SINGLETON-MERTEN SYNDROME 1 | rs35667974 | C | benign | IFIH1 | ClinVar |
SINGLETON-MERTEN SYNDROME 1 | rs35337543 | G | benign | IFIH1 | ClinVar |
SINGLETON-MERTEN SYNDROME 1 | rs13418718 | A | benign | IFIH1 | ClinVar |
SINGLETON-MERTEN SYNDROME 1 | rs766508793 | T | uncertain significance | IFIH1 | ClinVar |
SINGLETON-MERTEN SYNDROME 1 | rs79324540 | T | uncertain significance | IFIH1 | ClinVar |
SINGLETON-MERTEN SYNDROME 1 | rs74162089 | A | benign | IFIH1 | ClinVar |
SINGLETON-MERTEN SYNDROME 1 | rs376048533 | 0009 | IFIH1 | OMIM | |
SINGLETON-MERTEN SYNDROME 1 | rs569337014 | likely benign | IFIH1 | ClinVar | |
SINGLETON-MERTEN SYNDROME 1 | rs376048533 | T | pathogenic | IFIH1 | ClinVar |
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Clinical Data Details
1st Author | Year | Journal/Site/File | Title/Description |
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References (23 out of 23 not yet reviewed)
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