rs59757815
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs59757815(A;T) |
Make rs59757815(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 16 |
Position | 16182484 |
Gene | ABCC6 |
is a | snp |
is | mentioned by |
dbSNP | rs59757815 |
dbSNP (classic) | rs59757815 |
ClinGen | rs59757815 |
ebi | rs59757815 |
HLI | rs59757815 |
Exac | rs59757815 |
Gnomad | rs59757815 |
Varsome | rs59757815 |
LitVar | rs59757815 |
Map | rs59757815 |
PheGenI | rs59757815 |
Biobank | rs59757815 |
1000 genomes | rs59757815 |
hgdp | rs59757815 |
ensembl | rs59757815 |
geneview | rs59757815 |
scholar | rs59757815 |
rs59757815 | |
pharmgkb | rs59757815 |
gwascentral | rs59757815 |
openSNP | rs59757815 |
23andMe | rs59757815 |
SNPshot | rs59757815 |
SNPdbe | rs59757815 |
MSV3d | rs59757815 |
GWAS Ctlg | rs59757815 |
GMAF | 0.01974 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs59757815(T;T) |
Alt | rs59757815(T;T) |
Reference | Rs59757815(A;A) |
Significance | Untested |
Disease | |
Variation | info |
Gene | ABCC6 |
CLNDBN | |
Reversed | 1 |
HGVS | NC_000016.9:g.16276341T>A |
CLNSRC | |
CLNACC |
[PMID 16086317] Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.