rs398124289
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs398124289(-;GCTCC) |
Make rs398124289(GCTCC;GCTCC) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 5874973 |
Gene | NPHP4 |
is a | snp |
is | mentioned by |
dbSNP | rs398124289 |
dbSNP (classic) | rs398124289 |
ClinGen | rs398124289 |
ebi | rs398124289 |
HLI | rs398124289 |
Exac | rs398124289 |
Gnomad | rs398124289 |
Varsome | rs398124289 |
LitVar | rs398124289 |
Map | rs398124289 |
PheGenI | rs398124289 |
Biobank | rs398124289 |
1000 genomes | rs398124289 |
hgdp | rs398124289 |
ensembl | rs398124289 |
geneview | rs398124289 |
scholar | rs398124289 |
rs398124289 | |
pharmgkb | rs398124289 |
gwascentral | rs398124289 |
openSNP | rs398124289 |
23andMe | rs398124289 |
SNPshot | rs398124289 |
SNPdbe | rs398124289 |
MSV3d | rs398124289 |
GWAS Ctlg | rs398124289 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398124289(GCTCC;GCTCC) |
Alt | rs398124289(GCTCC;GCTCC) |
Reference | Rs398124289(-;-) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | NPHP4 |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000001.10:g.5935034_5935038dupGGAGC |
CLNSRC | ClinVar |
CLNACC | RCV000081713.3, |