rs60791294

Orientation

minus

Stabilized

minus

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

Make rs60791294(A;A)

Make rs60791294(A;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

16163086

Gene

ABCC6

is a	snp
is	mentioned by
dbSNP	rs60791294
dbSNP (classic)	rs60791294
ClinGen	rs60791294
ebi	rs60791294
HLI	rs60791294
Exac	rs60791294
Gnomad	rs60791294
Varsome	rs60791294
LitVar	rs60791294
Map	rs60791294
PheGenI	rs60791294
Biobank	rs60791294
1000 genomes	rs60791294
hgdp	rs60791294
ensembl	rs60791294
geneview	rs60791294
scholar	rs60791294
google	rs60791294
pharmgkb	rs60791294
gwascentral	rs60791294
openSNP	rs60791294
23andMe	rs60791294
SNPshot	rs60791294
SNPdbe	rs60791294
MSV3d	rs60791294
GWAS Ctlg	rs60791294

Max Magnitude

0

OMIM	603234
Desc
Variant	0003
Related	also

ClinVar
Risk	rs60791294(A;A) rs60791294(C;C)
Alt	rs60791294(A;A) rs60791294(C;C)
Reference	Rs60791294(G;G)
Significance	Pathogenic
Disease	Pseudoxanthoma elasticum
Variation	info
Gene	ABCC6
CLNDBN	Pseudoxanthoma elasticum
Reversed	1
HGVS	NC_000016.9:g.16256943C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006939.3,

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

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