rs752158933
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;TC) | 5 | Polycystic Kidney Disease (predicted) |
(TC;TC) | 0 | common in clinvar |
Make rs752158933(-;-) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 11 |
Position | 62639458 |
Gene | GANAB |
is a | snp |
is | mentioned by |
dbSNP | rs752158933 |
dbSNP (classic) | rs752158933 |
ClinGen | rs752158933 |
ebi | rs752158933 |
HLI | rs752158933 |
Exac | rs752158933 |
Gnomad | rs752158933 |
Varsome | rs752158933 |
LitVar | rs752158933 |
Map | rs752158933 |
PheGenI | rs752158933 |
Biobank | rs752158933 |
1000 genomes | rs752158933 |
hgdp | rs752158933 |
ensembl | rs752158933 |
geneview | rs752158933 |
scholar | rs752158933 |
rs752158933 | |
pharmgkb | rs752158933 |
gwascentral | rs752158933 |
openSNP | rs752158933 |
23andMe | rs752158933 |
SNPshot | rs752158933 |
SNPdbe | rs752158933 |
MSV3d | rs752158933 |
GWAS Ctlg | rs752158933 |
Max Magnitude | 5 |
aka c.150_151delGA
ClinVar | |
---|---|
Risk | rs752158933(-;-) |
Alt | rs752158933(-;-) |
Reference | Rs752158933(TC;TC) |
Significance | Pathogenic |
Disease | Polycystic kidney disease 3 |
Variation | info |
Gene | GANAB |
CLNDBN | Polycystic kidney disease 3 |
Reversed | 0 |
HGVS | NC_000011.9:g.62406930_62406931delTC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000239461.1, |