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rs587777575

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777575(C;T)
Make rs587777575(T;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position162281498
GeneIFIH1
is asnp
is mentioned by
dbSNPrs587777575
ebirs587777575
HLIrs587777575
Exacrs587777575
Varsomers587777575
Maprs587777575
PheGenIrs587777575
hapmaprs587777575
1000 genomesrs587777575
hgdprs587777575
ensemblrs587777575
gopubmedrs587777575
geneviewrs587777575
scholarrs587777575
googlers587777575
pharmgkbrs587777575
gwascentralrs587777575
openSNPrs587777575
23andMers587777575
23andMe allrs587777575
SNP Nexus

SNPshotrs587777575
SNPdbers587777575
MSV3drs587777575
GWAS Ctlgrs587777575
Max Magnitude0
ClinVar
Risk rs587777575(C,T;C,T)
Alt rs587777575(C,T;C,T)
Reference rs587777575(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.163138008C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000128858.3,