rs72653771

Orientation

minus

Stabilized

minus

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

Make rs72653771(A;T)

Make rs72653771(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

16190294

Gene

ABCC6

is a	snp
is	mentioned by
dbSNP	rs72653771
dbSNP (classic)	rs72653771
ClinGen	rs72653771
ebi	rs72653771
HLI	rs72653771
Exac	rs72653771
Gnomad	rs72653771
Varsome	rs72653771
LitVar	rs72653771
Map	rs72653771
PheGenI	rs72653771
Biobank	rs72653771
1000 genomes	rs72653771
hgdp	rs72653771
ensembl	rs72653771
geneview	rs72653771
scholar	rs72653771
google	rs72653771
pharmgkb	rs72653771
gwascentral	rs72653771
openSNP	rs72653771
23andMe	rs72653771
SNPshot	rs72653771
SNPdbe	rs72653771
MSV3d	rs72653771
GWAS Ctlg	rs72653771

Max Magnitude

0

ClinVar
Risk	rs72653771(T;T)
Alt	rs72653771(T;T)
Reference	Rs72653771(A;A)
Significance	Untested
Disease
Variation	info
Gene	ABCC6
CLNDBN
Reversed	1
HGVS	NC_000016.9:g.16284151T>A
CLNSRC
CLNACC

[PMID 15894595] Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations.