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rs587777448

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777448(A;A)
Make rs587777448(A;G)
ReferenceGRCh38 38.1/142
Chromosome2
Position162273914
GeneIFIH1
is asnp
is mentioned by
dbSNPrs587777448
ebirs587777448
HLIrs587777448
Exacrs587777448
Varsomers587777448
Maprs587777448
PheGenIrs587777448
hapmaprs587777448
1000 genomesrs587777448
hgdprs587777448
ensemblrs587777448
gopubmedrs587777448
geneviewrs587777448
scholarrs587777448
googlers587777448
pharmgkbrs587777448
gwascentralrs587777448
openSNPrs587777448
23andMers587777448
23andMe allrs587777448
SNP Nexus

SNPshotrs587777448
SNPdbers587777448
MSV3drs587777448
GWAS Ctlgrs587777448
Max Magnitude0
ClinVar
Risk rs587777448(A;A)
Alt rs587777448(A;A)
Reference rs587777448(G;G)
Significance Pathogenic
Disease Aicardi-goutieres syndrome 7
Variation info
Gene IFIH1
CLNDBN Aicardi-goutieres syndrome 7
Reversed 0
HGVS NC_000002.11:g.163130424G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000125473.3,