Have questions? Visit https://www.reddit.com/r/SNPedia

rs587777445

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777445(C;T)
Make rs587777445(T;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position162276832
GeneIFIH1
is asnp
is mentioned by
dbSNPrs587777445
dbSNP (classic)rs587777445
ClinGenrs587777445
ebirs587777445
HLIrs587777445
Exacrs587777445
Gnomadrs587777445
Varsomers587777445
LitVarrs587777445
Maprs587777445
PheGenIrs587777445
Biobankrs587777445
1000 genomesrs587777445
hgdprs587777445
ensemblrs587777445
geneviewrs587777445
scholarrs587777445
googlers587777445
pharmgkbrs587777445
gwascentralrs587777445
openSNPrs587777445
23andMers587777445
SNPshotrs587777445
SNPdbers587777445
MSV3drs587777445
GWAS Ctlgrs587777445
Max Magnitude0
ClinVar
Risk Rs587777445(C;C) rs587777445(T;T)
Alt Rs587777445(C;C) rs587777445(T;T)
Reference Rs587777445(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.163133342C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000125470.2,