rs2238472

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	1	most likely a benign polymorphism
(A;G)	1	most likely a benign polymorphism
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/142

Chromosome

16

Position

16157742

Gene

ABCC6

is a	snp
is	mentioned by
dbSNP	rs2238472
dbSNP (classic)	rs2238472
ClinGen	rs2238472
ebi	rs2238472
HLI	rs2238472
Exac	rs2238472
Gnomad	rs2238472
Varsome	rs2238472
LitVar	rs2238472
Map	rs2238472
PheGenI	rs2238472
Biobank	rs2238472
1000 genomes	rs2238472
hgdp	rs2238472
ensembl	rs2238472
geneview	rs2238472
scholar	rs2238472
google	rs2238472
pharmgkb	rs2238472
gwascentral	rs2238472
openSNP	rs2238472
23andMe	rs2238472
SNPshot	rs2238472
SNPdbe	rs2238472
MSV3d	rs2238472
GWAS Ctlg	rs2238472

GMAF

0.1938

Max Magnitude

1

?	(A;A) (A;G) (G;G)	28

OMIM	603234
Desc	PSEUDOXANTHOMA ELASTICUM
Variant	0011
Related	also

ClinVar
Risk	Rs2238472(A;A)
Alt	Rs2238472(A;A)
Reference	Rs2238472(G;G)
Significance	Pathogenic
Disease	Pseudoxanthoma elasticum not provided
Variation	info
Gene	ABCC6
CLNDBN	Pseudoxanthoma elasticum not provided
Reversed	1
HGVS	NC_000016.9:g.16251599C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006948.4, RCV000132640.1,

[PMID 11536079] A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.