rs72653747
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs72653747(G;G) |
Make rs72653747(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 16159500 |
Gene | ABCC6 |
is a | snp |
is | mentioned by |
dbSNP | rs72653747 |
dbSNP (classic) | rs72653747 |
ClinGen | rs72653747 |
ebi | rs72653747 |
HLI | rs72653747 |
Exac | rs72653747 |
Gnomad | rs72653747 |
Varsome | rs72653747 |
LitVar | rs72653747 |
Map | rs72653747 |
PheGenI | rs72653747 |
Biobank | rs72653747 |
1000 genomes | rs72653747 |
hgdp | rs72653747 |
ensembl | rs72653747 |
geneview | rs72653747 |
scholar | rs72653747 |
rs72653747 | |
pharmgkb | rs72653747 |
gwascentral | rs72653747 |
openSNP | rs72653747 |
23andMe | rs72653747 |
SNPshot | rs72653747 |
SNPdbe | rs72653747 |
MSV3d | rs72653747 |
GWAS Ctlg | rs72653747 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs72653747(G;G) |
Alt | rs72653747(G;G) |
Reference | Rs72653747(T;T) |
Significance | Untested |
Disease | |
Variation | info |
Gene | ABCC6 |
CLNDBN | |
Reversed | 1 |
HGVS | NC_000016.9:g.16253357A>C |
CLNSRC | |
CLNACC |
[PMID 18253096] ABCC6 mutations in pseudoxanthoma elasticum: an update including eight novel ones.