rs72653744

Orientation

minus

Stabilized

minus

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

Make rs72653744(C;T)

Make rs72653744(T;T)

Reference

GRCh38 38.1/142

Chromosome

16

Position

16163009

Gene

ABCC6

is a	snp
is	mentioned by
dbSNP	rs72653744
dbSNP (classic)	rs72653744
ClinGen	rs72653744
ebi	rs72653744
HLI	rs72653744
Exac	rs72653744
Gnomad	rs72653744
Varsome	rs72653744
LitVar	rs72653744
Map	rs72653744
PheGenI	rs72653744
Biobank	rs72653744
1000 genomes	rs72653744
hgdp	rs72653744
ensembl	rs72653744
geneview	rs72653744
scholar	rs72653744
google	rs72653744
pharmgkb	rs72653744
gwascentral	rs72653744
openSNP	rs72653744
23andMe	rs72653744
SNPshot	rs72653744
SNPdbe	rs72653744
MSV3d	rs72653744
GWAS Ctlg	rs72653744

Max Magnitude

0

OMIM	603234
Desc
Variant	0013
Related	also

ClinVar
Risk	rs72653744(T;T)
Alt	rs72653744(T;T)
Reference	Rs72653744(C;C)
Significance	Pathogenic
Disease	Pseudoxanthoma elasticum not provided
Variation	info
Gene	ABCC6
CLNDBN	Pseudoxanthoma elasticum not provided
Reversed	1
HGVS	NC_000016.9:g.16256866G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006950.6, RCV000255402.1,

[PMID 11439001] Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11.