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rs397514758

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514758(A;A)
Make rs397514758(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position219213310
GeneABCB6
is asnp
is mentioned by
dbSNPrs397514758
ebirs397514758
HLIrs397514758
Exacrs397514758
Varsomers397514758
Maprs397514758
PheGenIrs397514758
hapmaprs397514758
1000 genomesrs397514758
hgdprs397514758
ensemblrs397514758
gopubmedrs397514758
geneviewrs397514758
scholarrs397514758
googlers397514758
pharmgkbrs397514758
gwascentralrs397514758
openSNPrs397514758
23andMers397514758
23andMe allrs397514758
SNP Nexus

SNPshotrs397514758
SNPdbers397514758
MSV3drs397514758
GWAS Ctlgrs397514758
Max Magnitude0
ClinVar
Risk rs397514758(A;A)
Alt rs397514758(A;A)
Reference rs397514758(G;G)
Significance Pathogenic
Disease Dyschromatosis universalis hereditaria 3
Variation info
Gene ABCB6
CLNDBN Dyschromatosis universalis hereditaria 3
Reversed 1
HGVS NC_000002.11:g.220078032C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000054818.2,