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rs397514756

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514756(C;C)
Make rs397514756(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position219216084
GeneABCB6
is asnp
is mentioned by
dbSNPrs397514756
ebirs397514756
HLIrs397514756
Exacrs397514756
Varsomers397514756
Maprs397514756
PheGenIrs397514756
hapmaprs397514756
1000 genomesrs397514756
hgdprs397514756
ensemblrs397514756
gopubmedrs397514756
geneviewrs397514756
scholarrs397514756
googlers397514756
pharmgkbrs397514756
gwascentralrs397514756
openSNPrs397514756
23andMers397514756
23andMe allrs397514756
SNP Nexus

SNPshotrs397514756
SNPdbers397514756
MSV3drs397514756
GWAS Ctlgrs397514756
Max Magnitude0
ClinVar
Risk rs397514756(C;C)
Alt rs397514756(C;C)
Reference rs397514756(T;T)
Significance Pathogenic
Disease Dyschromatosis universalis hereditaria 3
Variation info
Gene ABCB6
CLNDBN Dyschromatosis universalis hereditaria 3
Reversed 1
HGVS NC_000002.11:g.220080806A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000054816.2,