rs72653762

Orientation

minus

Stabilized

minus

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

Make rs72653762(A;G)

Make rs72653762(G;G)

Reference

GRCh38 38.1/142

Chromosome

16

Position

16202006

Gene

ABCC6

is a	snp
is	mentioned by
dbSNP	rs72653762
dbSNP (classic)	rs72653762
ClinGen	rs72653762
ebi	rs72653762
HLI	rs72653762
Exac	rs72653762
Gnomad	rs72653762
Varsome	rs72653762
LitVar	rs72653762
Map	rs72653762
PheGenI	rs72653762
Biobank	rs72653762
1000 genomes	rs72653762
hgdp	rs72653762
ensembl	rs72653762
geneview	rs72653762
scholar	rs72653762
google	rs72653762
pharmgkb	rs72653762
gwascentral	rs72653762
openSNP	rs72653762
23andMe	rs72653762
SNPshot	rs72653762
SNPdbe	rs72653762
MSV3d	rs72653762
GWAS Ctlg	rs72653762

GMAF

0.003214

Max Magnitude

0

ClinVar
Risk	rs72653762(G;G)
Alt	rs72653762(G;G)
Reference	Rs72653762(A;A)
Significance	Probable-Pathogenic
Disease	not provided not specified
Variation	info
Gene	ABCC6
CLNDBN	not provided not specified
Reversed	1
HGVS	NC_000016.9:g.16295863T>C
CLNSRC
CLNACC	RCV000256117.1, RCV000455861.1,

[PMID 15086542] Novel ABCC6 mutations in pseudoxanthoma elasticum.