rs72653704

minus

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

Make rs72653704(C;G)

Make rs72653704(G;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

16169827

Gene

ABCC6

is a	snp
is	mentioned by
dbSNP	rs72653704
dbSNP (classic)	rs72653704
ClinGen	rs72653704
ebi	rs72653704
HLI	rs72653704
Exac	rs72653704
Gnomad	rs72653704
Varsome	rs72653704
LitVar	rs72653704
Map	rs72653704
PheGenI	rs72653704
Biobank	rs72653704
1000 genomes	rs72653704
hgdp	rs72653704
ensembl	rs72653704
geneview	rs72653704
scholar	rs72653704
google	rs72653704
pharmgkb	rs72653704
gwascentral	rs72653704
openSNP	rs72653704
23andMe	rs72653704
SNPshot	rs72653704
SNPdbe	rs72653704
MSV3d	rs72653704
GWAS Ctlg	rs72653704

Max Magnitude

0

ClinVar
Risk	rs72653704(A;A) rs72653704(G;G)
Alt	rs72653704(A;A) rs72653704(G;G)
Reference	Rs72653704(C;C)
Significance	Pathogenic
Disease	Pseudoxanthoma elasticum
Variation	info
Gene	ABCC6
CLNDBN	Pseudoxanthoma elasticum
Reversed	1
HGVS	NC_000016.9:g.16263684G>T
CLNSRC
CLNACC	RCV000273697.1,

[PMID 17617515 ] Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.