rs63750427

Orientation

minus

Stabilized

minus

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

Make rs63750427(C;C)

Make rs63750427(C;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

16163158

Gene

ABCC6

is a	snp
is	mentioned by
dbSNP	rs63750427
dbSNP (classic)	rs63750427
ClinGen	rs63750427
ebi	rs63750427
HLI	rs63750427
Exac	rs63750427
Gnomad	rs63750427
Varsome	rs63750427
LitVar	rs63750427
Map	rs63750427
PheGenI	rs63750427
Biobank	rs63750427
1000 genomes	rs63750427
hgdp	rs63750427
ensembl	rs63750427
geneview	rs63750427
scholar	rs63750427
google	rs63750427
pharmgkb	rs63750427
gwascentral	rs63750427
openSNP	rs63750427
23andMe	rs63750427
SNPshot	rs63750427
SNPdbe	rs63750427
MSV3d	rs63750427
GWAS Ctlg	rs63750427

Max Magnitude

0

OMIM	603234
Desc
Variant	0004
Related	also

ClinVar
Risk	rs63750427(A;A) rs63750427(C;C)
Alt	rs63750427(A;A) rs63750427(C;C)
Reference	Rs63750427(G;G)
Significance	Pathogenic
Disease	Pseudoxanthoma elasticum
Variation	info
Gene	ABCC6
CLNDBN	Pseudoxanthoma elasticum
Reversed	1
HGVS	NC_000016.9:g.16257015C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006940.3,

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

[PMID 12673275] ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum.