rs8058696

Orientation

plus

Stabilized

plus

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

Make rs8058696(C;C)

Make rs8058696(C;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

16185012

Gene

ABCC6

is a	snp
is	mentioned by
dbSNP	rs8058696
dbSNP (classic)	rs8058696
ClinGen	rs8058696
ebi	rs8058696
HLI	rs8058696
Exac	rs8058696
Gnomad	rs8058696
Varsome	rs8058696
LitVar	rs8058696
Map	rs8058696
PheGenI	rs8058696
Biobank	rs8058696
1000 genomes	rs8058696
hgdp	rs8058696
ensembl	rs8058696
geneview	rs8058696
scholar	rs8058696
google	rs8058696
pharmgkb	rs8058696
gwascentral	rs8058696
openSNP	rs8058696
23andMe	rs8058696
SNPshot	rs8058696
SNPdbe	rs8058696
MSV3d	rs8058696
GWAS Ctlg	rs8058696

GMAF

0.3577

Max Magnitude

0

ClinVar
Risk	rs8058696(C;C)
Alt	rs8058696(C;C)
Reference	Rs8058696(G;G)
Significance	Untested
Disease
Variation	info
Gene	ABCC6
CLNDBN
Reversed	0
HGVS	NC_000016.9:g.16278869G>C
CLNSRC
CLNACC

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