rs1057516041
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1057516041(A;A) |
Make rs1057516041(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 16 |
Position | 2094127 |
Gene | LOC105371049, PKD1 |
is a | snp |
is | mentioned by |
dbSNP | rs1057516041 |
dbSNP (classic) | rs1057516041 |
ClinGen | rs1057516041 |
ebi | rs1057516041 |
HLI | rs1057516041 |
Exac | rs1057516041 |
Gnomad | rs1057516041 |
Varsome | rs1057516041 |
LitVar | rs1057516041 |
Map | rs1057516041 |
PheGenI | rs1057516041 |
Biobank | rs1057516041 |
1000 genomes | rs1057516041 |
hgdp | rs1057516041 |
ensembl | rs1057516041 |
geneview | rs1057516041 |
scholar | rs1057516041 |
rs1057516041 | |
pharmgkb | rs1057516041 |
gwascentral | rs1057516041 |
openSNP | rs1057516041 |
23andMe | rs1057516041 |
SNPshot | rs1057516041 |
SNPdbe | rs1057516041 |
MSV3d | rs1057516041 |
GWAS Ctlg | rs1057516041 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057516041(A;A) |
Alt | rs1057516041(A;A) |
Reference | Rs1057516041(G;G) |
Significance | Pathogenic |
Disease | Polycystic kidney disease |
Variation | info |
Gene | PKD1 LOC105371049 |
CLNDBN | Polycystic kidney disease, adult type |
Reversed | 1 |
HGVS | NC_000016.9:g.2144128C>T |
CLNSRC | |
CLNACC | RCV000408619.1, |