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rs121909721

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909721(A;A)
Make rs121909721(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position27313031
GeneMPV17
is asnp
is mentioned by
dbSNPrs121909721
dbSNP (classic)rs121909721
ClinGenrs121909721
ebirs121909721
HLIrs121909721
Exacrs121909721
Gnomadrs121909721
Varsomers121909721
LitVarrs121909721
Maprs121909721
PheGenIrs121909721
Biobankrs121909721
1000 genomesrs121909721
hgdprs121909721
ensemblrs121909721
geneviewrs121909721
scholarrs121909721
googlers121909721
pharmgkbrs121909721
gwascentralrs121909721
openSNPrs121909721
23andMers121909721
SNPshotrs121909721
SNPdbers121909721
MSV3drs121909721
GWAS Ctlgrs121909721
Max Magnitude0
OMIM137960
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121909721(A;A)
Alt rs121909721(A;A)
Reference Rs121909721(G;G)
Significance Pathogenic
Disease Navajo neurohepatopathy
Variation info
Gene MPV17
CLNDBN Navajo neurohepatopathy
Reversed 1
HGVS NC_000002.11:g.27535898C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000017543.26,