rs397514758

Orientation

minus

Stabilized

minus

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

Make rs397514758(A;A)

Make rs397514758(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

219213310

Gene

ABCB6

is a	snp
is	mentioned by
dbSNP	rs397514758
dbSNP (classic)	rs397514758
ClinGen	rs397514758
ebi	rs397514758
HLI	rs397514758
Exac	rs397514758
Gnomad	rs397514758
Varsome	rs397514758
LitVar	rs397514758
Map	rs397514758
PheGenI	rs397514758
Biobank	rs397514758
1000 genomes	rs397514758
hgdp	rs397514758
ensembl	rs397514758
geneview	rs397514758
scholar	rs397514758
google	rs397514758
pharmgkb	rs397514758
gwascentral	rs397514758
openSNP	rs397514758
23andMe	rs397514758
SNPshot	rs397514758
SNPdbe	rs397514758
MSV3d	rs397514758
GWAS Ctlg	rs397514758

Max Magnitude

0

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 UniProtKB (protein)
CLNACC	RCV000054818.2,