rs72650700

Orientation

minus

Stabilized

minus

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

Make rs72650700(C;T)

Make rs72650700(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

16190247

Gene

ABCC6

is a	snp
is	mentioned by
dbSNP	rs72650700
dbSNP (classic)	rs72650700
ClinGen	rs72650700
ebi	rs72650700
HLI	rs72650700
Exac	rs72650700
Gnomad	rs72650700
Varsome	rs72650700
LitVar	rs72650700
Map	rs72650700
PheGenI	rs72650700
Biobank	rs72650700
1000 genomes	rs72650700
hgdp	rs72650700
ensembl	rs72650700
geneview	rs72650700
scholar	rs72650700
google	rs72650700
pharmgkb	rs72650700
gwascentral	rs72650700
openSNP	rs72650700
23andMe	rs72650700
SNPshot	rs72650700
SNPdbe	rs72650700
MSV3d	rs72650700
GWAS Ctlg	rs72650700

Max Magnitude

0

ClinVar
Risk	rs72650700(A;A) rs72650700(T;T)
Alt	rs72650700(A;A) rs72650700(T;T)
Reference	Rs72650700(C;C)
Significance	Pathogenic
Disease	Generalized arterial calcification of infancy 2 Pseudoxanthoma elasticum Pseudoxanthoma elasticum not provided
Variation	info
Gene	ABCC6
CLNDBN	Generalized arterial calcification of infancy 2 Pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste not provided
Reversed	1
HGVS	NC_000016.9:g.16284104G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000023279.4, RCV000023280.4, RCV000191057.1, RCV000429924.1,

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