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rs587777446

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777446(C;T)
Make rs587777446(T;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position162273913
GeneIFIH1
is asnp
is mentioned by
dbSNPrs587777446
ebirs587777446
HLIrs587777446
Exacrs587777446
Varsomers587777446
Maprs587777446
PheGenIrs587777446
hapmaprs587777446
1000 genomesrs587777446
hgdprs587777446
ensemblrs587777446
gopubmedrs587777446
geneviewrs587777446
scholarrs587777446
googlers587777446
pharmgkbrs587777446
gwascentralrs587777446
openSNPrs587777446
23andMers587777446
23andMe allrs587777446
SNP Nexus

SNPshotrs587777446
SNPdbers587777446
MSV3drs587777446
GWAS Ctlgrs587777446
Max Magnitude0
ClinVar
Risk rs587777446(C,T;C,T)
Alt rs587777446(C,T;C,T)
Reference rs587777446(G;G)
Significance Pathogenic
Disease Aicardi-goutieres syndrome 7
Variation info
Gene IFIH1
CLNDBN Aicardi-goutieres syndrome 7
Reversed 1
HGVS NC_000002.11:g.163130423C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000125471.4,