rs63750273

Orientation

minus

Stabilized

minus

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

Make rs63750273(G;T)

Make rs63750273(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

16157810

Gene

ABCC6

is a	snp
is	mentioned by
dbSNP	rs63750273
dbSNP (classic)	rs63750273
ClinGen	rs63750273
ebi	rs63750273
HLI	rs63750273
Exac	rs63750273
Gnomad	rs63750273
Varsome	rs63750273
LitVar	rs63750273
Map	rs63750273
PheGenI	rs63750273
Biobank	rs63750273
1000 genomes	rs63750273
hgdp	rs63750273
ensembl	rs63750273
geneview	rs63750273
scholar	rs63750273
google	rs63750273
pharmgkb	rs63750273
gwascentral	rs63750273
openSNP	rs63750273
23andMe	rs63750273
SNPshot	rs63750273
SNPdbe	rs63750273
MSV3d	rs63750273
GWAS Ctlg	rs63750273

Max Magnitude

0

ClinVar
Risk	rs63750273(A;A)
Alt	rs63750273(A;A)
Reference	Rs63750273(G;G)
Significance	Pathogenic
Disease	Pseudoxanthoma elasticum Generalized arterial calcification of infancy 2
Variation	info
Gene	ABCC6
CLNDBN	Pseudoxanthoma elasticum Generalized arterial calcification of infancy 2
Reversed	1
HGVS	NC_000016.9:g.16251667C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006952.4, RCV000023274.4,

[PMID 16086317] Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.

[PMID 10811882] Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter.