rs1060503526
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 5 | Polycystic kidney disease, autosomal dominant form (predicted) |
Make rs1060503526(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 4 |
Position | 88038380 |
Gene | PKD2 |
is a | snp |
is | mentioned by |
dbSNP | rs1060503526 |
dbSNP (classic) | rs1060503526 |
ClinGen | rs1060503526 |
ebi | rs1060503526 |
HLI | rs1060503526 |
Exac | rs1060503526 |
Gnomad | rs1060503526 |
Varsome | rs1060503526 |
LitVar | rs1060503526 |
Map | rs1060503526 |
PheGenI | rs1060503526 |
Biobank | rs1060503526 |
1000 genomes | rs1060503526 |
hgdp | rs1060503526 |
ensembl | rs1060503526 |
geneview | rs1060503526 |
scholar | rs1060503526 |
rs1060503526 | |
pharmgkb | rs1060503526 |
gwascentral | rs1060503526 |
openSNP | rs1060503526 |
23andMe | rs1060503526 |
SNPshot | rs1060503526 |
SNPdbe | rs1060503526 |
MSV3d | rs1060503526 |
GWAS Ctlg | rs1060503526 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs1060503526(T;T) |
Alt | rs1060503526(T;T) |
Reference | Rs1060503526(C;C) |
Significance | Pathogenic |
Disease | Polycystic kidney disease |
Variation | info |
Gene | PKD2 |
CLNDBN | Polycystic kidney disease, autosomal dominant |
Reversed | 0 |
HGVS | NC_000004.11:g.88959532C>T |
CLNSRC | |
CLNACC | RCV000456934.1, |