rs33958626
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common on affy axiom data |
Make rs33958626(A;A) |
Make rs33958626(A;C) |
Reference | GRCh38 38.1/142 |
Chromosome | 2 |
Position | 110201449 |
Gene | NPHP1 |
is a | snp |
is | mentioned by |
dbSNP | rs33958626 |
dbSNP (classic) | rs33958626 |
ClinGen | rs33958626 |
ebi | rs33958626 |
HLI | rs33958626 |
Exac | rs33958626 |
Gnomad | rs33958626 |
Varsome | rs33958626 |
LitVar | rs33958626 |
Map | rs33958626 |
PheGenI | rs33958626 |
Biobank | rs33958626 |
1000 genomes | rs33958626 |
hgdp | rs33958626 |
ensembl | rs33958626 |
geneview | rs33958626 |
scholar | rs33958626 |
rs33958626 | |
pharmgkb | rs33958626 |
gwascentral | rs33958626 |
openSNP | rs33958626 |
23andMe | rs33958626 |
SNPshot | rs33958626 |
SNPdbe | rs33958626 |
MSV3d | rs33958626 |
GWAS Ctlg | rs33958626 |
GMAF | 0.0202 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs33958626(A;A) |
Alt | rs33958626(A;A) |
Reference | Rs33958626(C;C) |
Significance | Other |
Disease | not specified Nephronophthisis Renal dysplasia and retinal aplasia Joubert syndrome |
Variation | info |
Gene | NPHP1 |
CLNDBN | not specified Nephronophthisis Renal dysplasia and retinal aplasia Joubert syndrome |
Reversed | 1 |
HGVS | NC_000002.11:g.110959026G>T |
CLNSRC | ClinVar University of Chicago |
CLNACC | RCV000117829.8, RCV000293377.1, RCV000350672.1, RCV000385350.1, |