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rs147952488

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs147952488(A;G)
Make rs147952488(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position27312992
GeneMPV17
is asnp
is mentioned by
dbSNPrs147952488
ebirs147952488
HLIrs147952488
Exacrs147952488
Varsomers147952488
Maprs147952488
PheGenIrs147952488
hapmaprs147952488
1000 genomesrs147952488
hgdprs147952488
ensemblrs147952488
gopubmedrs147952488
geneviewrs147952488
scholarrs147952488
googlers147952488
pharmgkbrs147952488
gwascentralrs147952488
openSNPrs147952488
23andMers147952488
23andMe allrs147952488
SNP Nexus

SNPshotrs147952488
SNPdbers147952488
MSV3drs147952488
GWAS Ctlgrs147952488
Max Magnitude0
ClinVar
Risk rs147952488(G;G)
Alt rs147952488(G;G)
Reference rs147952488(A;A)
Significance Pathogenic
Disease Navajo neurohepatopathy not provided
Variation info
Gene MPV17
CLNDBN Navajo neurohepatopathy not provided
Reversed 0
HGVS NC_000002.11:g.27535859A>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000031903.1, RCV000195573.1,