rs28939702

Orientation

minus

Stabilized

minus

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

Make rs28939702(C;T)

Make rs28939702(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

16154899

Gene

ABCC6

is a	snp
is	mentioned by
dbSNP	rs28939702
dbSNP (classic)	rs28939702
ClinGen	rs28939702
ebi	rs28939702
HLI	rs28939702
Exac	rs28939702
Gnomad	rs28939702
Varsome	rs28939702
LitVar	rs28939702
Map	rs28939702
PheGenI	rs28939702
Biobank	rs28939702
1000 genomes	rs28939702
hgdp	rs28939702
ensembl	rs28939702
geneview	rs28939702
scholar	rs28939702
google	rs28939702
pharmgkb	rs28939702
gwascentral	rs28939702
openSNP	rs28939702
23andMe	rs28939702
SNPshot	rs28939702
SNPdbe	rs28939702
MSV3d	rs28939702
GWAS Ctlg	rs28939702

Max Magnitude

0

OMIM	603234
Desc	PSEUDOXANTHOMA ELASTICUM
Variant	0017
Related	also

ClinVar
Risk	rs28939702(A;A) rs28939702(T;T)
Alt	rs28939702(A;A) rs28939702(T;T)
Reference	Rs28939702(C;C)
Significance	Pathogenic
Disease	Pseudoxanthoma elasticum
Variation	info
Gene	ABCC6
CLNDBN	Pseudoxanthoma elasticum
Reversed	1
HGVS	NC_000016.9:g.16248756G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006954.3,

[PMID 10954200] Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum.