rs72653766

Orientation

minus

Stabilized

minus

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

Make rs72653766(G;G)

Make rs72653766(G;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

16198041

Gene

ABCC6

is a	snp
is	mentioned by
dbSNP	rs72653766
dbSNP (classic)	rs72653766
ClinGen	rs72653766
ebi	rs72653766
HLI	rs72653766
Exac	rs72653766
Gnomad	rs72653766
Varsome	rs72653766
LitVar	rs72653766
Map	rs72653766
PheGenI	rs72653766
Biobank	rs72653766
1000 genomes	rs72653766
hgdp	rs72653766
ensembl	rs72653766
geneview	rs72653766
scholar	rs72653766
google	rs72653766
pharmgkb	rs72653766
gwascentral	rs72653766
openSNP	rs72653766
23andMe	rs72653766
SNPshot	rs72653766
SNPdbe	rs72653766
MSV3d	rs72653766
GWAS Ctlg	rs72653766

Max Magnitude

0

ClinVar
Risk	rs72653766(G;G)
Alt	rs72653766(G;G)
Reference	Rs72653766(T;T)
Significance	Untested
Disease
Variation	info
Gene	ABCC6
CLNDBN
Reversed	1
HGVS	NC_000016.9:g.16291898A>C
CLNSRC
CLNACC

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