rs63750607

Orientation

minus

Stabilized

minus

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

Make rs63750607(A;A)

Make rs63750607(A;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

16161463

Gene

ABCC6

is a	snp
is	mentioned by
dbSNP	rs63750607
dbSNP (classic)	rs63750607
ClinGen	rs63750607
ebi	rs63750607
HLI	rs63750607
Exac	rs63750607
Gnomad	rs63750607
Varsome	rs63750607
LitVar	rs63750607
Map	rs63750607
PheGenI	rs63750607
Biobank	rs63750607
1000 genomes	rs63750607
hgdp	rs63750607
ensembl	rs63750607
geneview	rs63750607
scholar	rs63750607
google	rs63750607
pharmgkb	rs63750607
gwascentral	rs63750607
openSNP	rs63750607
23andMe	rs63750607
SNPshot	rs63750607
SNPdbe	rs63750607
MSV3d	rs63750607
GWAS Ctlg	rs63750607

Max Magnitude

0

ClinVar
Risk	rs63750607(A;A)
Alt	rs63750607(A;A)
Reference	Rs63750607(G;G)
Significance	Untested
Disease
Variation	info
Gene	ABCC6
CLNDBN
Reversed	1
HGVS	NC_000016.9:g.16255320C>T
CLNSRC
CLNACC

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