rs72653791

Orientation

minus

Stabilized

minus

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

Make rs72653791(C;T)

Make rs72653791(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

16178871

Gene

ABCC6

is a	snp
is	mentioned by
dbSNP	rs72653791
dbSNP (classic)	rs72653791
ClinGen	rs72653791
ebi	rs72653791
HLI	rs72653791
Exac	rs72653791
Gnomad	rs72653791
Varsome	rs72653791
LitVar	rs72653791
Map	rs72653791
PheGenI	rs72653791
Biobank	rs72653791
1000 genomes	rs72653791
hgdp	rs72653791
ensembl	rs72653791
geneview	rs72653791
scholar	rs72653791
google	rs72653791
pharmgkb	rs72653791
gwascentral	rs72653791
openSNP	rs72653791
23andMe	rs72653791
SNPshot	rs72653791
SNPdbe	rs72653791
MSV3d	rs72653791
GWAS Ctlg	rs72653791

Max Magnitude

0

ClinVar
Risk	rs72653791(A;A) rs72653791(T;T)
Alt	rs72653791(A;A) rs72653791(T;T)
Reference	Rs72653791(C;C)
Significance	Untested
Disease
Variation	info
Gene	ABCC6
CLNDBN
Reversed	1
HGVS	NC_000016.9:g.16272728G>A
CLNSRC
CLNACC

[PMID 15894595] Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations.