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rs397514757

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397514757(A;G)
Make rs397514757(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position219218166
GeneABCB6
is asnp
is mentioned by
dbSNPrs397514757
ebirs397514757
HLIrs397514757
Exacrs397514757
Varsomers397514757
Maprs397514757
PheGenIrs397514757
hapmaprs397514757
1000 genomesrs397514757
hgdprs397514757
ensemblrs397514757
gopubmedrs397514757
geneviewrs397514757
scholarrs397514757
googlers397514757
pharmgkbrs397514757
gwascentralrs397514757
openSNPrs397514757
23andMers397514757
23andMe allrs397514757
SNP Nexus

SNPshotrs397514757
SNPdbers397514757
MSV3drs397514757
GWAS Ctlgrs397514757
Max Magnitude0
ClinVar
Risk rs397514757(G;G)
Alt rs397514757(G;G)
Reference rs397514757(A;A)
Significance Pathogenic
Disease Dyschromatosis universalis hereditaria 3
Variation info
Gene ABCB6
CLNDBN Dyschromatosis universalis hereditaria 3
Reversed 1
HGVS NC_000002.11:g.220082888T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000054817.2,