rs397514757

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs397514757(A;G)

Make rs397514757(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

219218166

Gene

ABCB6

is a	snp
is	mentioned by
dbSNP	rs397514757
dbSNP (classic)	rs397514757
ClinGen	rs397514757
ebi	rs397514757
HLI	rs397514757
Exac	rs397514757
Gnomad	rs397514757
Varsome	rs397514757
LitVar	rs397514757
Map	rs397514757
PheGenI	rs397514757
Biobank	rs397514757
1000 genomes	rs397514757
hgdp	rs397514757
ensembl	rs397514757
geneview	rs397514757
scholar	rs397514757
google	rs397514757
pharmgkb	rs397514757
gwascentral	rs397514757
openSNP	rs397514757
23andMe	rs397514757
SNPshot	rs397514757
SNPdbe	rs397514757
MSV3d	rs397514757
GWAS Ctlg	rs397514757

Max Magnitude

0

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 UniProtKB (protein)
CLNACC	RCV000054817.2,