rs1057519635
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1057519635(A;A) |
Make rs1057519635(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 14 |
Position | 29626508 |
Gene | PRKD1 |
is a | snp |
is | mentioned by |
dbSNP | rs1057519635 |
dbSNP (classic) | rs1057519635 |
ClinGen | rs1057519635 |
ebi | rs1057519635 |
HLI | rs1057519635 |
Exac | rs1057519635 |
Gnomad | rs1057519635 |
Varsome | rs1057519635 |
LitVar | rs1057519635 |
Map | rs1057519635 |
PheGenI | rs1057519635 |
Biobank | rs1057519635 |
1000 genomes | rs1057519635 |
hgdp | rs1057519635 |
ensembl | rs1057519635 |
geneview | rs1057519635 |
scholar | rs1057519635 |
rs1057519635 | |
pharmgkb | rs1057519635 |
gwascentral | rs1057519635 |
openSNP | rs1057519635 |
23andMe | rs1057519635 |
SNPshot | rs1057519635 |
SNPdbe | rs1057519635 |
MSV3d | rs1057519635 |
GWAS Ctlg | rs1057519635 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057519635(A;A) |
Alt | rs1057519635(A;A) |
Reference | Rs1057519635(G;G) |
Significance | Pathogenic |
Disease | Congenital heart defects and ectodermal dysplasia |
Variation | info |
Gene | PRKD1 |
CLNDBN | Congenital heart defects and ectodermal dysplasia |
Reversed | 1 |
HGVS | NC_000014.8:g.30095714C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000417214.1, |