rs72653706

Orientation

minus

Stabilized

minus

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

Make rs72653706(C;T)

Make rs72653706(T;T)

Reference

GRCh38 38.1/142

Chromosome

16

Position

16163078

Gene

ABCC6

is a	snp
is	mentioned by
dbSNP	rs72653706
dbSNP (classic)	rs72653706
ClinGen	rs72653706
ebi	rs72653706
HLI	rs72653706
Exac	rs72653706
Gnomad	rs72653706
Varsome	rs72653706
LitVar	rs72653706
Map	rs72653706
PheGenI	rs72653706
Biobank	rs72653706
1000 genomes	rs72653706
hgdp	rs72653706
ensembl	rs72653706
geneview	rs72653706
scholar	rs72653706
google	rs72653706
pharmgkb	rs72653706
gwascentral	rs72653706
openSNP	rs72653706
23andMe	rs72653706
SNPshot	rs72653706
SNPdbe	rs72653706
MSV3d	rs72653706
GWAS Ctlg	rs72653706

GMAF

0.001377

Max Magnitude

0

aka c.3421C>T (p.Arg1141Ter or R1141X)

OMIM	603234
Desc
Variant	0001
Related	also

ClinVar
Risk	rs72653706(T;T)
Alt	rs72653706(T;T)
Reference	Rs72653706(C;C)
Significance	Pathogenic
Disease	Pseudoxanthoma elasticum Generalized arterial calcification of infancy 2 not provided Pseudoxanthoma elasticum Cutis laxa Papule
Variation	info
Gene	ABCC6
CLNDBN	Pseudoxanthoma elasticum Generalized arterial calcification of infancy 2 not provided Pseudoxanthoma elasticum, forme fruste Cutis laxa Papule
Reversed	1
HGVS	NC_000016.9:g.16256935G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006937.5, RCV000023272.5, RCV000254838.2, RCV000280878.1, RCV000415101.1,

[PMID 10835643] Mutations in ABCC6 cause pseudoxanthoma elasticum.