rs9370096
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs9370096(A;A) |
Make rs9370096(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 52050158 |
Gene | PKHD1 |
is a | snp |
is | mentioned by |
dbSNP | rs9370096 |
dbSNP (classic) | rs9370096 |
ClinGen | rs9370096 |
ebi | rs9370096 |
HLI | rs9370096 |
Exac | rs9370096 |
Gnomad | rs9370096 |
Varsome | rs9370096 |
LitVar | rs9370096 |
Map | rs9370096 |
PheGenI | rs9370096 |
Biobank | rs9370096 |
1000 genomes | rs9370096 |
hgdp | rs9370096 |
ensembl | rs9370096 |
geneview | rs9370096 |
scholar | rs9370096 |
rs9370096 | |
pharmgkb | rs9370096 |
gwascentral | rs9370096 |
openSNP | rs9370096 |
23andMe | rs9370096 |
SNPshot | rs9370096 |
SNPdbe | rs9370096 |
MSV3d | rs9370096 |
GWAS Ctlg | rs9370096 |
GMAF | 0.41 |
Max Magnitude | 0 |
Although a SNP in the PKHD1 gene, this variant is considered benign in ClinVar and not causative for any disorder.
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs9370096(A;A) |
Alt | rs9370096(A;A) |
Reference | Rs9370096(G;G) |
Significance | Non-pathogenic |
Disease | not specified Autosomal recessive polycystic kidney disease |
Variation | info |
Gene | PKHD1 |
CLNDBN | not specified Autosomal recessive polycystic kidney disease |
Reversed | 0 |
HGVS | NC_000006.11:g.51914956G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000082536.6, RCV000278857.1, |