rs72653794

Orientation

minus

Stabilized

minus

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

Make rs72653794(A;A)

Make rs72653794(A;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

16177622

Gene

ABCC6

is a	snp
is	mentioned by
dbSNP	rs72653794
dbSNP (classic)	rs72653794
ClinGen	rs72653794
ebi	rs72653794
HLI	rs72653794
Exac	rs72653794
Gnomad	rs72653794
Varsome	rs72653794
LitVar	rs72653794
Map	rs72653794
PheGenI	rs72653794
Biobank	rs72653794
1000 genomes	rs72653794
hgdp	rs72653794
ensembl	rs72653794
geneview	rs72653794
scholar	rs72653794
google	rs72653794
pharmgkb	rs72653794
gwascentral	rs72653794
openSNP	rs72653794
23andMe	rs72653794
SNPshot	rs72653794
SNPdbe	rs72653794
MSV3d	rs72653794
GWAS Ctlg	rs72653794

Max Magnitude

0

ClinVar
Risk	rs72653794(A;A)
Alt	rs72653794(A;A)
Reference	Rs72653794(G;G)
Significance	Probable-Pathogenic
Disease	not provided
Variation	info
Gene	ABCC6
CLNDBN	not provided
Reversed	1
HGVS	NC_000016.9:g.16271479C>T
CLNSRC
CLNACC	RCV000418691.1,

[PMID 16086317] Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.