rs375412499
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs375412499(C;T) |
Make rs375412499(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 4 |
Position | 47937655 |
Gene | CNGA1, LOC101927157 |
is a | snp |
is | mentioned by |
dbSNP | rs375412499 |
dbSNP (classic) | rs375412499 |
ClinGen | rs375412499 |
ebi | rs375412499 |
HLI | rs375412499 |
Exac | rs375412499 |
Gnomad | rs375412499 |
Varsome | rs375412499 |
LitVar | rs375412499 |
Map | rs375412499 |
PheGenI | rs375412499 |
Biobank | rs375412499 |
1000 genomes | rs375412499 |
hgdp | rs375412499 |
ensembl | rs375412499 |
geneview | rs375412499 |
scholar | rs375412499 |
rs375412499 | |
pharmgkb | rs375412499 |
gwascentral | rs375412499 |
openSNP | rs375412499 |
23andMe | rs375412499 |
SNPshot | rs375412499 |
SNPdbe | rs375412499 |
MSV3d | rs375412499 |
GWAS Ctlg | rs375412499 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs375412499(T;T) |
Alt | rs375412499(T;T) |
Reference | Rs375412499(C;C) |
Significance | Probable-Pathogenic |
Disease | Retinitis pigmentosa |
Variation | info |
Gene | CNGA1 LOC101927157 |
CLNDBN | Retinitis pigmentosa |
Reversed | 0 |
HGVS | NC_000004.11:g.47939672C>T |
CLNSRC | ClinVar |
CLNACC | RCV000132617.1, |