rs72547524
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs72547524(A;A) |
Make rs72547524(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 16 |
Position | 16150606 |
Gene | ABCC6 |
is a | snp |
is | mentioned by |
dbSNP | rs72547524 |
dbSNP (classic) | rs72547524 |
ClinGen | rs72547524 |
ebi | rs72547524 |
HLI | rs72547524 |
Exac | rs72547524 |
Gnomad | rs72547524 |
Varsome | rs72547524 |
LitVar | rs72547524 |
Map | rs72547524 |
PheGenI | rs72547524 |
Biobank | rs72547524 |
1000 genomes | rs72547524 |
hgdp | rs72547524 |
ensembl | rs72547524 |
geneview | rs72547524 |
scholar | rs72547524 |
rs72547524 | |
pharmgkb | rs72547524 |
gwascentral | rs72547524 |
openSNP | rs72547524 |
23andMe | rs72547524 |
SNPshot | rs72547524 |
SNPdbe | rs72547524 |
MSV3d | rs72547524 |
GWAS Ctlg | rs72547524 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs72547524(A;A) |
Alt | rs72547524(A;A) |
Reference | Rs72547524(G;G) |
Significance | Pathogenic |
Disease | Pseudoxanthoma elasticum not specified |
Variation | info |
Gene | ABCC6 |
CLNDBN | Pseudoxanthoma elasticum not specified |
Reversed | 0 |
HGVS | NC_000016.9:g.16244463G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000006955.3, RCV000455869.1, |