rs63749794

Orientation

minus

Stabilized

minus

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

Make rs63749794(C;T)

Make rs63749794(T;T)

Reference

GRCh38 38.1/142

Chromosome

16

Position

16163159

Gene

ABCC6

is a	snp
is	mentioned by
dbSNP	rs63749794
dbSNP (classic)	rs63749794
ClinGen	rs63749794
ebi	rs63749794
HLI	rs63749794
Exac	rs63749794
Gnomad	rs63749794
Varsome	rs63749794
LitVar	rs63749794
Map	rs63749794
PheGenI	rs63749794
Biobank	rs63749794
1000 genomes	rs63749794
hgdp	rs63749794
ensembl	rs63749794
geneview	rs63749794
scholar	rs63749794
google	rs63749794
pharmgkb	rs63749794
gwascentral	rs63749794
openSNP	rs63749794
23andMe	rs63749794
SNPshot	rs63749794
SNPdbe	rs63749794
MSV3d	rs63749794
GWAS Ctlg	rs63749794

Max Magnitude

0

ClinVar
Risk	rs63749794(T;T)
Alt	rs63749794(T;T)
Reference	Rs63749794(C;C)
Significance	Untested
Disease
Variation	info
Gene	ABCC6
CLNDBN
Reversed	1
HGVS	NC_000016.9:g.16257016G>A
CLNSRC
CLNACC

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