rs137852920
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs137852920(C;T) |
Make rs137852920(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 5904716 |
Gene | NPHP4 |
is a | snp |
is | mentioned by |
dbSNP | rs137852920 |
dbSNP (classic) | rs137852920 |
ClinGen | rs137852920 |
ebi | rs137852920 |
HLI | rs137852920 |
Exac | rs137852920 |
Gnomad | rs137852920 |
Varsome | rs137852920 |
LitVar | rs137852920 |
Map | rs137852920 |
PheGenI | rs137852920 |
Biobank | rs137852920 |
1000 genomes | rs137852920 |
hgdp | rs137852920 |
ensembl | rs137852920 |
geneview | rs137852920 |
scholar | rs137852920 |
rs137852920 | |
pharmgkb | rs137852920 |
gwascentral | rs137852920 |
openSNP | rs137852920 |
23andMe | rs137852920 |
SNPshot | rs137852920 |
SNPdbe | rs137852920 |
MSV3d | rs137852920 |
GWAS Ctlg | rs137852920 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137852920(T;T) |
Alt | rs137852920(T;T) |
Reference | Rs137852920(C;C) |
Significance | Pathogenic |
Disease | Nephronophthisis 4 Cerebello-oculo-renal syndrome (nephronophthisis Infertility |
Variation | info |
Gene | NPHP4 |
CLNDBN | Nephronophthisis 4 Cerebello-oculo-renal syndrome (nephronophthisis, oculomotor apraxia and cerebellar abnormalities) Infertility |
Reversed | 1 |
HGVS | NC_000001.10:g.5964776G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000003570.2, RCV000162133.1, |