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rs121909722

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909722(A;A)
Make rs121909722(A;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position27309945
GeneMPV17, UCN
is asnp
is mentioned by
dbSNPrs121909722
dbSNP (classic)rs121909722
ClinGenrs121909722
ebirs121909722
HLIrs121909722
Exacrs121909722
Gnomadrs121909722
Varsomers121909722
LitVarrs121909722
Maprs121909722
PheGenIrs121909722
Biobankrs121909722
1000 genomesrs121909722
hgdprs121909722
ensemblrs121909722
geneviewrs121909722
scholarrs121909722
googlers121909722
pharmgkbrs121909722
gwascentralrs121909722
openSNPrs121909722
23andMers121909722
SNPshotrs121909722
SNPdbers121909722
MSV3drs121909722
GWAS Ctlgrs121909722
Max Magnitude0
OMIM137960
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121909722(A;A)
Alt rs121909722(A;A)
Reference Rs121909722(C;C)
Significance Pathogenic
Disease Navajo neurohepatopathy
Variation info
Gene UCN MPV17
CLNDBN Navajo neurohepatopathy
Reversed 1
HGVS NC_000002.11:g.27532813G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000017544.28,