rs72653744
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs72653744(C;T) |
Make rs72653744(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 16 |
Position | 16163009 |
Gene | ABCC6 |
is a | snp |
is | mentioned by |
dbSNP | rs72653744 |
dbSNP (classic) | rs72653744 |
ClinGen | rs72653744 |
ebi | rs72653744 |
HLI | rs72653744 |
Exac | rs72653744 |
Gnomad | rs72653744 |
Varsome | rs72653744 |
LitVar | rs72653744 |
Map | rs72653744 |
PheGenI | rs72653744 |
Biobank | rs72653744 |
1000 genomes | rs72653744 |
hgdp | rs72653744 |
ensembl | rs72653744 |
geneview | rs72653744 |
scholar | rs72653744 |
rs72653744 | |
pharmgkb | rs72653744 |
gwascentral | rs72653744 |
openSNP | rs72653744 |
23andMe | rs72653744 |
SNPshot | rs72653744 |
SNPdbe | rs72653744 |
MSV3d | rs72653744 |
GWAS Ctlg | rs72653744 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs72653744(T;T) |
Alt | rs72653744(T;T) |
Reference | Rs72653744(C;C) |
Significance | Pathogenic |
Disease | Pseudoxanthoma elasticum not provided |
Variation | info |
Gene | ABCC6 |
CLNDBN | Pseudoxanthoma elasticum not provided |
Reversed | 1 |
HGVS | NC_000016.9:g.16256866G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006950.6, RCV000255402.1, |
[PMID 11439001] Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11.