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

rs587777447

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs587777447(C;C)
Make rs587777447(C;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position162288221
GeneIFIH1
is asnp
is mentioned by
dbSNPrs587777447
ebirs587777447
HLIrs587777447
Exacrs587777447
Varsomers587777447
Maprs587777447
PheGenIrs587777447
hapmaprs587777447
1000 genomesrs587777447
hgdprs587777447
ensemblrs587777447
gopubmedrs587777447
geneviewrs587777447
scholarrs587777447
googlers587777447
pharmgkbrs587777447
gwascentralrs587777447
openSNPrs587777447
23andMers587777447
23andMe allrs587777447
SNP Nexus

SNPshotrs587777447
SNPdbers587777447
MSV3drs587777447
GWAS Ctlgrs587777447
Max Magnitude0
ClinVar
Risk rs587777447(C,T;C,T)
Alt rs587777447(C,T;C,T)
Reference rs587777447(A;A)
Significance Pathogenic
Disease Aicardi-goutieres syndrome 7
Variation info
Gene IFIH1
CLNDBN Aicardi-goutieres syndrome 7
Reversed 1
HGVS NC_000002.11:g.163144731T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000125472.3,