rs72653749

Orientation

minus

Stabilized

minus

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

Make rs72653749(C;T)

Make rs72653749(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

16157722

Gene

ABCC6

is a	snp
is	mentioned by
dbSNP	rs72653749
dbSNP (classic)	rs72653749
ClinGen	rs72653749
ebi	rs72653749
HLI	rs72653749
Exac	rs72653749
Gnomad	rs72653749
Varsome	rs72653749
LitVar	rs72653749
Map	rs72653749
PheGenI	rs72653749
Biobank	rs72653749
1000 genomes	rs72653749
hgdp	rs72653749
ensembl	rs72653749
geneview	rs72653749
scholar	rs72653749
google	rs72653749
pharmgkb	rs72653749
gwascentral	rs72653749
openSNP	rs72653749
23andMe	rs72653749
SNPshot	rs72653749
SNPdbe	rs72653749
MSV3d	rs72653749
GWAS Ctlg	rs72653749

Max Magnitude

0

ClinVar
Risk	rs72653749(T;T)
Alt	rs72653749(T;T)
Reference	Rs72653749(C;C)
Significance	Untested
Disease
Variation	info
Gene	ABCC6
CLNDBN
Reversed	1
HGVS	NC_000016.9:g.16251579G>A
CLNSRC
CLNACC

[PMID 15459974] ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE).