rs397514756

Orientation

minus

Stabilized

minus

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

Make rs397514756(C;C)

Make rs397514756(C;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

219216084

Gene

ABCB6

is a	snp
is	mentioned by
dbSNP	rs397514756
dbSNP (classic)	rs397514756
ClinGen	rs397514756
ebi	rs397514756
HLI	rs397514756
Exac	rs397514756
Gnomad	rs397514756
Varsome	rs397514756
LitVar	rs397514756
Map	rs397514756
PheGenI	rs397514756
Biobank	rs397514756
1000 genomes	rs397514756
hgdp	rs397514756
ensembl	rs397514756
geneview	rs397514756
scholar	rs397514756
google	rs397514756
pharmgkb	rs397514756
gwascentral	rs397514756
openSNP	rs397514756
23andMe	rs397514756
SNPshot	rs397514756
SNPdbe	rs397514756
MSV3d	rs397514756
GWAS Ctlg	rs397514756

Max Magnitude

0

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 UniProtKB (protein)
CLNACC	RCV000054816.2,