rs199469657
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AGGTAA;AGGTAA) | 0 | common in clinvar |
Make rs199469657(-;-) |
Make rs199469657(-;AGGTAA) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 224503648 |
Gene | CUL3 |
is a | snp |
is | mentioned by |
dbSNP | rs199469657 |
dbSNP (classic) | rs199469657 |
ClinGen | rs199469657 |
ebi | rs199469657 |
HLI | rs199469657 |
Exac | rs199469657 |
Gnomad | rs199469657 |
Varsome | rs199469657 |
LitVar | rs199469657 |
Map | rs199469657 |
PheGenI | rs199469657 |
Biobank | rs199469657 |
1000 genomes | rs199469657 |
hgdp | rs199469657 |
ensembl | rs199469657 |
geneview | rs199469657 |
scholar | rs199469657 |
rs199469657 | |
pharmgkb | rs199469657 |
gwascentral | rs199469657 |
openSNP | rs199469657 |
23andMe | rs199469657 |
SNPshot | rs199469657 |
SNPdbe | rs199469657 |
MSV3d | rs199469657 |
GWAS Ctlg | rs199469657 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199469657(-;-) |
Alt | rs199469657(-;-) |
Reference | Rs199469657(AGGTAA;AGGTAA) |
Significance | Pathogenic |
Disease | Pseudohypoaldosteronism |
Variation | info |
Gene | CUL3 |
CLNDBN | Pseudohypoaldosteronism, type 2 |
Reversed | 1 |
HGVS | NC_000002.11:g.225368365_225368370delTTACCT |
CLNSRC | ClinVar |
CLNACC | RCV000128495.1, |