rs1085307450
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Chromosome | 3 |
Position | 171612277 |
Gene | PLD1 |
is a | snp |
is | mentioned by |
dbSNP | rs1085307450 |
dbSNP (classic) | rs1085307450 |
ClinGen | rs1085307450 |
ebi | rs1085307450 |
HLI | rs1085307450 |
Exac | rs1085307450 |
Gnomad | rs1085307450 |
Varsome | rs1085307450 |
LitVar | rs1085307450 |
Map | rs1085307450 |
PheGenI | rs1085307450 |
Biobank | rs1085307450 |
1000 genomes | rs1085307450 |
hgdp | rs1085307450 |
ensembl | rs1085307450 |
geneview | rs1085307450 |
scholar | rs1085307450 |
rs1085307450 | |
pharmgkb | rs1085307450 |
gwascentral | rs1085307450 |
openSNP | rs1085307450 |
23andMe | rs1085307450 |
SNPshot | rs1085307450 |
SNPdbe | rs1085307450 |
MSV3d | rs1085307450 |
GWAS Ctlg | rs1085307450 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1085307450(C;C) |
Alt | rs1085307450(C;C) |
Reference | Rs1085307450(T;T) |
Significance | Pathogenic |
Disease | Cardiac valvular defect |
Variation | info |
Gene | PLD1 |
CLNDBN | Cardiac valvular defect, developmental |
Reversed | 1 |
HGVS | NC_000003.11:g.171330067A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000488913.1, |