rs72653796

Orientation

minus

Stabilized

minus

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

Make rs72653796(C;T)

Make rs72653796(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

16177610

Gene

ABCC6

is a	snp
is	mentioned by
dbSNP	rs72653796
dbSNP (classic)	rs72653796
ClinGen	rs72653796
ebi	rs72653796
HLI	rs72653796
Exac	rs72653796
Gnomad	rs72653796
Varsome	rs72653796
LitVar	rs72653796
Map	rs72653796
PheGenI	rs72653796
Biobank	rs72653796
1000 genomes	rs72653796
hgdp	rs72653796
ensembl	rs72653796
geneview	rs72653796
scholar	rs72653796
google	rs72653796
pharmgkb	rs72653796
gwascentral	rs72653796
openSNP	rs72653796
23andMe	rs72653796
SNPshot	rs72653796
SNPdbe	rs72653796
MSV3d	rs72653796
GWAS Ctlg	rs72653796

Max Magnitude

0

ClinVar
Risk	rs72653796(T;T)
Alt	rs72653796(T;T)
Reference	Rs72653796(C;C)
Significance	Untested
Disease
Variation	info
Gene	ABCC6
CLNDBN
Reversed	1
HGVS	NC_000016.9:g.16271467G>A
CLNSRC
CLNACC

[PMID 16410789] Pseudoxanthoma elasticum is a recessive disease characterized by compound heterozygosity.