rs72664209

Orientation

minus

Stabilized

minus

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

Make rs72664209(G;T)

Make rs72664209(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

16173283

Gene

ABCC6

is a	snp
is	mentioned by
dbSNP	rs72664209
dbSNP (classic)	rs72664209
ClinGen	rs72664209
ebi	rs72664209
HLI	rs72664209
Exac	rs72664209
Gnomad	rs72664209
Varsome	rs72664209
LitVar	rs72664209
Map	rs72664209
PheGenI	rs72664209
Biobank	rs72664209
1000 genomes	rs72664209
hgdp	rs72664209
ensembl	rs72664209
geneview	rs72664209
scholar	rs72664209
google	rs72664209
pharmgkb	rs72664209
gwascentral	rs72664209
openSNP	rs72664209
23andMe	rs72664209
SNPshot	rs72664209
SNPdbe	rs72664209
MSV3d	rs72664209
GWAS Ctlg	rs72664209

Max Magnitude

0

ClinVar
Risk	rs72664209(T;T)
Alt	rs72664209(T;T)
Reference	Rs72664209(G;G)
Significance	Pathogenic
Disease	Pseudoxanthoma elasticum Generalized arterial calcification of infancy 2 not provided
Variation	info
Gene	ABCC6
CLNDBN	Pseudoxanthoma elasticum Generalized arterial calcification of infancy 2 not provided
Reversed	1
HGVS	NC_000016.9:g.16267140C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006938.5, RCV000087145.5, RCV000254806.1,

[PMID 10835642] Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum.