rs28939701

Orientation

minus

Stabilized

minus

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

Make rs28939701(C;T)

Make rs28939701(T;T)

Reference

GRCh38 38.1/142

Chromosome

16

Position

16163087

Gene

ABCC6

is a	snp
is	mentioned by
dbSNP	rs28939701
dbSNP (classic)	rs28939701
ClinGen	rs28939701
ebi	rs28939701
HLI	rs28939701
Exac	rs28939701
Gnomad	rs28939701
Varsome	rs28939701
LitVar	rs28939701
Map	rs28939701
PheGenI	rs28939701
Biobank	rs28939701
1000 genomes	rs28939701
hgdp	rs28939701
ensembl	rs28939701
geneview	rs28939701
scholar	rs28939701
google	rs28939701
pharmgkb	rs28939701
gwascentral	rs28939701
openSNP	rs28939701
23andMe	rs28939701
SNPshot	rs28939701
SNPdbe	rs28939701
MSV3d	rs28939701
GWAS Ctlg	rs28939701

Max Magnitude

0

OMIM	603234
Desc	PSEUDOXANTHOMA ELASTICUM
Variant	0012
Related	also

ClinVar
Risk	rs28939701(T;T)
Alt	rs28939701(T;T)
Reference	Rs28939701(C;C)
Significance	Pathogenic
Disease	Pseudoxanthoma elasticum not provided
Variation	info
Gene	ABCC6
CLNDBN	Pseudoxanthoma elasticum not provided
Reversed	1
HGVS	NC_000016.9:g.16256944G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006949.5, RCV000255802.2,

[PMID 10811882] Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter.