rs63750494

Orientation

minus

Stabilized

minus

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

Make rs63750494(C;T)

Make rs63750494(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

16155012

Gene

ABCC6

is a	snp
is	mentioned by
dbSNP	rs63750494
dbSNP (classic)	rs63750494
ClinGen	rs63750494
ebi	rs63750494
HLI	rs63750494
Exac	rs63750494
Gnomad	rs63750494
Varsome	rs63750494
LitVar	rs63750494
Map	rs63750494
PheGenI	rs63750494
Biobank	rs63750494
1000 genomes	rs63750494
hgdp	rs63750494
ensembl	rs63750494
geneview	rs63750494
scholar	rs63750494
google	rs63750494
pharmgkb	rs63750494
gwascentral	rs63750494
openSNP	rs63750494
23andMe	rs63750494
SNPshot	rs63750494
SNPdbe	rs63750494
MSV3d	rs63750494
GWAS Ctlg	rs63750494

Max Magnitude

0

ClinVar
Risk	rs63750494(T;T)
Alt	rs63750494(T;T)
Reference	Rs63750494(C;C)
Significance	Untested
Disease
Variation	info
Gene	ABCC6
CLNDBN
Reversed	1
HGVS	NC_000016.9:g.16248869G>A
CLNSRC
CLNACC

[PMID 11536079] A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.