rs63749796

Orientation

minus

Stabilized

minus

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

Make rs63749796(C;C)

Make rs63749796(C;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

16159505

Gene

ABCC6

is a	snp
is	mentioned by
dbSNP	rs63749796
dbSNP (classic)	rs63749796
ClinGen	rs63749796
ebi	rs63749796
HLI	rs63749796
Exac	rs63749796
Gnomad	rs63749796
Varsome	rs63749796
LitVar	rs63749796
Map	rs63749796
PheGenI	rs63749796
Biobank	rs63749796
1000 genomes	rs63749796
hgdp	rs63749796
ensembl	rs63749796
geneview	rs63749796
scholar	rs63749796
google	rs63749796
pharmgkb	rs63749796
gwascentral	rs63749796
openSNP	rs63749796
23andMe	rs63749796
SNPshot	rs63749796
SNPdbe	rs63749796
MSV3d	rs63749796
GWAS Ctlg	rs63749796

Max Magnitude

0

OMIM	603234
Desc
Variant	0022
Related	also

ClinVar
Risk	rs63749796(C;C)
Alt	rs63749796(C;C)
Reference	Rs63749796(G;G)
Significance	Pathogenic
Disease	Pseudoxanthoma elasticum
Variation	info
Gene	ABCC6
CLNDBN	Pseudoxanthoma elasticum
Reversed	1
HGVS	NC_000016.9:g.16253362C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006959.4,

[PMID 15086542] Novel ABCC6 mutations in pseudoxanthoma elasticum.