rs1057518969
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CT;CT) | 0 | common in clinvar |
Make rs1057518969(-;-) |
Make rs1057518969(-;CT) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 4 |
Position | 88036325 |
Gene | PKD2 |
is a | snp |
is | mentioned by |
dbSNP | rs1057518969 |
dbSNP (classic) | rs1057518969 |
ClinGen | rs1057518969 |
ebi | rs1057518969 |
HLI | rs1057518969 |
Exac | rs1057518969 |
Gnomad | rs1057518969 |
Varsome | rs1057518969 |
LitVar | rs1057518969 |
Map | rs1057518969 |
PheGenI | rs1057518969 |
Biobank | rs1057518969 |
1000 genomes | rs1057518969 |
hgdp | rs1057518969 |
ensembl | rs1057518969 |
geneview | rs1057518969 |
scholar | rs1057518969 |
rs1057518969 | |
pharmgkb | rs1057518969 |
gwascentral | rs1057518969 |
openSNP | rs1057518969 |
23andMe | rs1057518969 |
SNPshot | rs1057518969 |
SNPdbe | rs1057518969 |
MSV3d | rs1057518969 |
GWAS Ctlg | rs1057518969 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057518969(-;-) |
Alt | rs1057518969(-;-) |
Reference | Rs1057518969(CT;CT) |
Significance | Pathogenic |
Disease | Elevated diastolic blood pressure Elevated systolic blood pressure Polycystic kidney dysplasia |
Variation | info |
Gene | PKD2 |
CLNDBN | Elevated diastolic blood pressure Elevated systolic blood pressure Polycystic kidney dysplasia |
Reversed | 0 |
HGVS | NC_000004.11:g.88957477_88957478delCT |
CLNSRC | |
CLNACC | RCV000415136.1, |