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rs121909723

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909723(C;T)
Make rs121909723(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position27313032
GeneMPV17
is asnp
is mentioned by
dbSNPrs121909723
dbSNP (classic)rs121909723
ClinGenrs121909723
ebirs121909723
HLIrs121909723
Exacrs121909723
Gnomadrs121909723
Varsomers121909723
LitVarrs121909723
Maprs121909723
PheGenIrs121909723
Biobankrs121909723
1000 genomesrs121909723
hgdprs121909723
ensemblrs121909723
geneviewrs121909723
scholarrs121909723
googlers121909723
pharmgkbrs121909723
gwascentralrs121909723
openSNPrs121909723
23andMers121909723
SNPshotrs121909723
SNPdbers121909723
MSV3drs121909723
GWAS Ctlgrs121909723
Max Magnitude0
OMIM137960
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121909723(T;T)
Alt rs121909723(T;T)
Reference Rs121909723(C;C)
Significance Pathogenic
Disease Navajo neurohepatopathy not provided
Variation info
Gene MPV17
CLNDBN Navajo neurohepatopathy not provided
Reversed 1
HGVS NC_000002.11:g.27535899G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000017545.25, RCV000264441.1,