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rs587777449

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587777449(A;A)
Make rs587777449(A;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position162282494
GeneIFIH1
is asnp
is mentioned by
dbSNPrs587777449
ebirs587777449
HLIrs587777449
Exacrs587777449
Varsomers587777449
Maprs587777449
PheGenIrs587777449
hapmaprs587777449
1000 genomesrs587777449
hgdprs587777449
ensemblrs587777449
gopubmedrs587777449
geneviewrs587777449
scholarrs587777449
googlers587777449
pharmgkbrs587777449
gwascentralrs587777449
openSNPrs587777449
23andMers587777449
23andMe allrs587777449
SNP Nexus

SNPshotrs587777449
SNPdbers587777449
MSV3drs587777449
GWAS Ctlgrs587777449
Max Magnitude0
ClinVar
Risk rs587777449(A,C;A,C)
Alt rs587777449(A,C;A,C)
Reference rs587777449(T;T)
Significance Pathogenic
Disease Aicardi-goutieres syndrome 7
Variation info
Gene IFIH1
CLNDBN Aicardi-goutieres syndrome 7
Reversed 0
HGVS NC_000002.11:g.163139004T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000125475.3,