rs566014072
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs566014072(A;A) |
Make rs566014072(A;C) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 16 |
Position | 2110321 |
Gene | PKD1 |
is a | snp |
is | mentioned by |
dbSNP | rs566014072 |
dbSNP (classic) | rs566014072 |
ClinGen | rs566014072 |
ebi | rs566014072 |
HLI | rs566014072 |
Exac | rs566014072 |
Gnomad | rs566014072 |
Varsome | rs566014072 |
LitVar | rs566014072 |
Map | rs566014072 |
PheGenI | rs566014072 |
Biobank | rs566014072 |
1000 genomes | rs566014072 |
hgdp | rs566014072 |
ensembl | rs566014072 |
geneview | rs566014072 |
scholar | rs566014072 |
rs566014072 | |
pharmgkb | rs566014072 |
gwascentral | rs566014072 |
openSNP | rs566014072 |
23andMe | rs566014072 |
SNPshot | rs566014072 |
SNPdbe | rs566014072 |
MSV3d | rs566014072 |
GWAS Ctlg | rs566014072 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs566014072(A;A) rs566014072(G;G) rs566014072(T;T) |
Alt | rs566014072(A;A) rs566014072(G;G) rs566014072(T;T) |
Reference | Rs566014072(C;C) |
Significance | Probable-Pathogenic |
Disease | 3-4 toe syndactyly Moderate sensorineural hearing impairment Polycystic kidney dysplasia |
Variation | info |
Gene | PKD1 |
CLNDBN | 3-4 toe syndactyly Moderate sensorineural hearing impairment Polycystic kidney dysplasia |
Reversed | 0 |
HGVS | NC_000016.9:g.2160322C>A |
CLNSRC | |
CLNACC | RCV000415375.1, |