rs796065353

Orientation

minus

Stabilized

minus

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

Make rs796065353(A;A)

Make rs796065353(A;C)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

219213495

Gene

ABCB6

is a	snp
is	mentioned by
dbSNP	rs796065353
dbSNP (classic)	rs796065353
ClinGen	rs796065353
ebi	rs796065353
HLI	rs796065353
Exac	rs796065353
Gnomad	rs796065353
Varsome	rs796065353
LitVar	rs796065353
Map	rs796065353
PheGenI	rs796065353
Biobank	rs796065353
1000 genomes	rs796065353
hgdp	rs796065353
ensembl	rs796065353
geneview	rs796065353
scholar	rs796065353
google	rs796065353
pharmgkb	rs796065353
gwascentral	rs796065353
openSNP	rs796065353
23andMe	rs796065353
SNPshot	rs796065353
SNPdbe	rs796065353
MSV3d	rs796065353
GWAS Ctlg	rs796065353

Max Magnitude

0

ClinVar
Risk	rs796065353(A;A)
Alt	rs796065353(A;A)
Reference	Rs796065353(C;C)
Significance	Pathogenic
Disease	Dyschromatosis universalis hereditaria 3
Variation	info
Gene	ABCB6
CLNDBN	Dyschromatosis universalis hereditaria 3
Reversed	1
HGVS	NC_000002.11:g.220078217G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000190414.2,