rs63751112

Orientation

minus

Stabilized

minus

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

Make rs63751112(C;T)

Make rs63751112(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

16154878

Gene

ABCC6

is a	snp
is	mentioned by
dbSNP	rs63751112
dbSNP (classic)	rs63751112
ClinGen	rs63751112
ebi	rs63751112
HLI	rs63751112
Exac	rs63751112
Gnomad	rs63751112
Varsome	rs63751112
LitVar	rs63751112
Map	rs63751112
PheGenI	rs63751112
Biobank	rs63751112
1000 genomes	rs63751112
hgdp	rs63751112
ensembl	rs63751112
geneview	rs63751112
scholar	rs63751112
google	rs63751112
pharmgkb	rs63751112
gwascentral	rs63751112
openSNP	rs63751112
23andMe	rs63751112
SNPshot	rs63751112
SNPdbe	rs63751112
MSV3d	rs63751112
GWAS Ctlg	rs63751112

Max Magnitude

0

ClinVar
Risk	rs63751112(T;T)
Alt	rs63751112(T;T)
Reference	Rs63751112(C;C)
Significance	Untested
Disease
Variation	info
Gene	ABCC6
CLNDBN
Reversed	1
HGVS	NC_000016.9:g.16248735G>A
CLNSRC
CLNACC

[PMID 15459974] ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE).