rs63750759

Orientation

minus

Stabilized

minus

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

Make rs63750759(C;T)

Make rs63750759(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

16154974

Gene

ABCC6

is a	snp
is	mentioned by
dbSNP	rs63750759
dbSNP (classic)	rs63750759
ClinGen	rs63750759
ebi	rs63750759
HLI	rs63750759
Exac	rs63750759
Gnomad	rs63750759
Varsome	rs63750759
LitVar	rs63750759
Map	rs63750759
PheGenI	rs63750759
Biobank	rs63750759
1000 genomes	rs63750759
hgdp	rs63750759
ensembl	rs63750759
geneview	rs63750759
scholar	rs63750759
google	rs63750759
pharmgkb	rs63750759
gwascentral	rs63750759
openSNP	rs63750759
23andMe	rs63750759
SNPshot	rs63750759
SNPdbe	rs63750759
MSV3d	rs63750759
GWAS Ctlg	rs63750759

Max Magnitude

0

OMIM	603234
Desc
Variant	0006
Related	also

ClinVar
Risk	rs63750759(T;T)
Alt	rs63750759(T;T)
Reference	Rs63750759(C;C)
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.16248831G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006942.5, RCV000023273.5, RCV000254915.1,

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