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rs267607268

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267607268(A;A)
Make rs267607268(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position27322443
GeneMPV17
is asnp
is mentioned by
dbSNPrs267607268
dbSNP (classic)rs267607268
ClinGenrs267607268
ebirs267607268
HLIrs267607268
Exacrs267607268
Gnomadrs267607268
Varsomers267607268
LitVarrs267607268
Maprs267607268
PheGenIrs267607268
Biobankrs267607268
1000 genomesrs267607268
hgdprs267607268
ensemblrs267607268
geneviewrs267607268
scholarrs267607268
googlers267607268
pharmgkbrs267607268
gwascentralrs267607268
openSNPrs267607268
23andMers267607268
SNPshotrs267607268
SNPdbers267607268
MSV3drs267607268
GWAS Ctlgrs267607268
Max Magnitude0
ClinVar
Risk rs267607268(A;A)
Alt rs267607268(A;A)
Reference Rs267607268(G;G)
Significance Pathogenic
Disease Navajo neurohepatopathy
Variation info
Gene MPV17
CLNDBN Navajo neurohepatopathy
Reversed 1
HGVS NC_000002.11:g.27545310C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000031915.1,