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rs121909724

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909724(A;A)
Make rs121909724(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position27312510
GeneMPV17
is asnp
is mentioned by
dbSNPrs121909724
dbSNP (classic)rs121909724
ClinGenrs121909724
ebirs121909724
HLIrs121909724
Exacrs121909724
Gnomadrs121909724
Varsomers121909724
LitVarrs121909724
Maprs121909724
PheGenIrs121909724
Biobankrs121909724
1000 genomesrs121909724
hgdprs121909724
ensemblrs121909724
geneviewrs121909724
scholarrs121909724
googlers121909724
pharmgkbrs121909724
gwascentralrs121909724
openSNPrs121909724
23andMers121909724
SNPshotrs121909724
SNPdbers121909724
MSV3drs121909724
GWAS Ctlgrs121909724
Max Magnitude0
OMIM137960
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121909724(A;A)
Alt rs121909724(A;A)
Reference Rs121909724(G;G)
Significance Pathogenic
Disease Navajo neurohepatopathy
Variation info
Gene MPV17
CLNDBN Navajo neurohepatopathy
Reversed 1
HGVS NC_000002.11:g.27535377C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017547.29,