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rs121909725

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909725(G;T)
Make rs121909725(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position27322448
GeneMPV17
is asnp
is mentioned by
dbSNPrs121909725
dbSNP (classic)rs121909725
ClinGenrs121909725
ebirs121909725
HLIrs121909725
Exacrs121909725
Gnomadrs121909725
Varsomers121909725
LitVarrs121909725
Maprs121909725
PheGenIrs121909725
Biobankrs121909725
1000 genomesrs121909725
hgdprs121909725
ensemblrs121909725
geneviewrs121909725
scholarrs121909725
googlers121909725
pharmgkbrs121909725
gwascentralrs121909725
openSNPrs121909725
23andMers121909725
SNPshotrs121909725
SNPdbers121909725
MSV3drs121909725
GWAS Ctlgrs121909725
Max Magnitude0
OMIM137960
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121909725(T;T)
Alt rs121909725(T;T)
Reference Rs121909725(G;G)
Significance Pathogenic
Disease Navajo neurohepatopathy
Variation info
Gene MPV17
CLNDBN Navajo neurohepatopathy
Reversed 1
HGVS NC_000002.11:g.27545315C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017548.29,