rs1057516202
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AGC;AGC) | 0 | common in clinvar |
Make rs1057516202(-;-) |
Make rs1057516202(-;AGC) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 16 |
Position | 2100027 |
Gene | PKD1 |
is a | snp |
is | mentioned by |
dbSNP | rs1057516202 |
dbSNP (classic) | rs1057516202 |
ClinGen | rs1057516202 |
ebi | rs1057516202 |
HLI | rs1057516202 |
Exac | rs1057516202 |
Gnomad | rs1057516202 |
Varsome | rs1057516202 |
LitVar | rs1057516202 |
Map | rs1057516202 |
PheGenI | rs1057516202 |
Biobank | rs1057516202 |
1000 genomes | rs1057516202 |
hgdp | rs1057516202 |
ensembl | rs1057516202 |
geneview | rs1057516202 |
scholar | rs1057516202 |
rs1057516202 | |
pharmgkb | rs1057516202 |
gwascentral | rs1057516202 |
openSNP | rs1057516202 |
23andMe | rs1057516202 |
SNPshot | rs1057516202 |
SNPdbe | rs1057516202 |
MSV3d | rs1057516202 |
GWAS Ctlg | rs1057516202 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057516202(-;-) |
Alt | rs1057516202(-;-) |
Reference | Rs1057516202(AGC;AGC) |
Significance | Probable-Pathogenic |
Disease | Polycystic kidney disease |
Variation | info |
Gene | PKD1 |
CLNDBN | Polycystic kidney disease, adult type |
Reversed | 1 |
HGVS | NC_000016.9:g.2150028_2150030delGCT |
CLNSRC | |
CLNACC | RCV000408785.1, |