rs63749823

Orientation

minus

Stabilized

minus

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

Make rs63749823(A;A)

Make rs63749823(A;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

16154953

Gene

ABCC6

is a	snp
is	mentioned by
dbSNP	rs63749823
dbSNP (classic)	rs63749823
ClinGen	rs63749823
ebi	rs63749823
HLI	rs63749823
Exac	rs63749823
Gnomad	rs63749823
Varsome	rs63749823
LitVar	rs63749823
Map	rs63749823
PheGenI	rs63749823
Biobank	rs63749823
1000 genomes	rs63749823
hgdp	rs63749823
ensembl	rs63749823
geneview	rs63749823
scholar	rs63749823
google	rs63749823
pharmgkb	rs63749823
gwascentral	rs63749823
openSNP	rs63749823
23andMe	rs63749823
SNPshot	rs63749823
SNPdbe	rs63749823
MSV3d	rs63749823
GWAS Ctlg	rs63749823

Max Magnitude

0

OMIM	603234
Desc
Variant	0021
Related	also

ClinVar
Risk	rs63749823(A;A)
Alt	rs63749823(A;A)
Reference	Rs63749823(G;G)
Significance	Pathogenic
Disease	Pseudoxanthoma elasticum
Variation	info
Gene	ABCC6
CLNDBN	Pseudoxanthoma elasticum
Reversed	1
HGVS	NC_000016.9:g.16248810C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006958.4,

[PMID 11536079] A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.