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rs267607256

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs267607256(A;G)
Make rs267607256(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position27312697
GeneMPV17
is asnp
is mentioned by
dbSNPrs267607256
dbSNP (classic)rs267607256
ClinGenrs267607256
ebirs267607256
HLIrs267607256
Exacrs267607256
Gnomadrs267607256
Varsomers267607256
LitVarrs267607256
Maprs267607256
PheGenIrs267607256
Biobankrs267607256
1000 genomesrs267607256
hgdprs267607256
ensemblrs267607256
geneviewrs267607256
scholarrs267607256
googlers267607256
pharmgkbrs267607256
gwascentralrs267607256
openSNPrs267607256
23andMers267607256
SNPshotrs267607256
SNPdbers267607256
MSV3drs267607256
GWAS Ctlgrs267607256
Max Magnitude0
ClinVar
Risk rs267607256(G;G)
Alt rs267607256(G;G)
Reference Rs267607256(A;A)
Significance Pathogenic
Disease Navajo neurohepatopathy
Variation info
Gene MPV17
CLNDBN Navajo neurohepatopathy
Reversed 1
HGVS NC_000002.11:g.27535564T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000031907.1,