rs373369949
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs373369949(A;A) |
Make rs373369949(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 5874542 |
Gene | NPHP4 |
is a | snp |
is | mentioned by |
dbSNP | rs373369949 |
dbSNP (classic) | rs373369949 |
ClinGen | rs373369949 |
ebi | rs373369949 |
HLI | rs373369949 |
Exac | rs373369949 |
Gnomad | rs373369949 |
Varsome | rs373369949 |
LitVar | rs373369949 |
Map | rs373369949 |
PheGenI | rs373369949 |
Biobank | rs373369949 |
1000 genomes | rs373369949 |
hgdp | rs373369949 |
ensembl | rs373369949 |
geneview | rs373369949 |
scholar | rs373369949 |
rs373369949 | |
pharmgkb | rs373369949 |
gwascentral | rs373369949 |
openSNP | rs373369949 |
23andMe | rs373369949 |
SNPshot | rs373369949 |
SNPdbe | rs373369949 |
MSV3d | rs373369949 |
GWAS Ctlg | rs373369949 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs373369949(A;A) rs373369949(T;T) |
Alt | rs373369949(A;A) rs373369949(T;T) |
Reference | Rs373369949(G;G) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | NPHP4 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.5934602G>A |
CLNSRC | |
CLNACC | RCV000171147.1, |