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rs587777576

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777576(A;A)
Make rs587777576(A;G)
ReferenceGRCh38 38.1/142
Chromosome2
Position162282558
GeneIFIH1
is asnp
is mentioned by
dbSNPrs587777576
ebirs587777576
HLIrs587777576
Exacrs587777576
Varsomers587777576
Maprs587777576
PheGenIrs587777576
hapmaprs587777576
1000 genomesrs587777576
hgdprs587777576
ensemblrs587777576
gopubmedrs587777576
geneviewrs587777576
scholarrs587777576
googlers587777576
pharmgkbrs587777576
gwascentralrs587777576
openSNPrs587777576
23andMers587777576
23andMe allrs587777576
SNP Nexus

SNPshotrs587777576
SNPdbers587777576
MSV3drs587777576
GWAS Ctlgrs587777576
Max Magnitude0
ClinVar
Risk rs587777576(A,G;A,G)
Alt rs587777576(A,G;A,G)
Reference rs587777576(C;C)
Significance Pathogenic
Disease Aicardi-goutieres syndrome 7
Variation info
Gene IFIH1
CLNDBN Aicardi-goutieres syndrome 7
Reversed 1
HGVS NC_000002.11:g.163139068G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000128859.3,