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rs672601336

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs672601336(A;A)
Make rs672601336(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position162281369
GeneIFIH1
is asnp
is mentioned by
dbSNPrs672601336
dbSNP (classic)rs672601336
ClinGenrs672601336
ebirs672601336
HLIrs672601336
Exacrs672601336
Gnomadrs672601336
Varsomers672601336
LitVarrs672601336
Maprs672601336
PheGenIrs672601336
Biobankrs672601336
1000 genomesrs672601336
hgdprs672601336
ensemblrs672601336
geneviewrs672601336
scholarrs672601336
googlers672601336
pharmgkbrs672601336
gwascentralrs672601336
openSNPrs672601336
23andMers672601336
SNPshotrs672601336
SNPdbers672601336
MSV3drs672601336
GWAS Ctlgrs672601336
Max Magnitude0
ClinVar
Risk rs672601336(A;A)
Alt rs672601336(A;A)
Reference Rs672601336(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.163137879C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000125474.4,