rs759781200
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs759781200(A;A) |
Make rs759781200(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 4 |
Position | 47940775 |
Gene | CNGA1, LOC101927157 |
is a | snp |
is | mentioned by |
dbSNP | rs759781200 |
dbSNP (classic) | rs759781200 |
ClinGen | rs759781200 |
ebi | rs759781200 |
HLI | rs759781200 |
Exac | rs759781200 |
Gnomad | rs759781200 |
Varsome | rs759781200 |
LitVar | rs759781200 |
Map | rs759781200 |
PheGenI | rs759781200 |
Biobank | rs759781200 |
1000 genomes | rs759781200 |
hgdp | rs759781200 |
ensembl | rs759781200 |
geneview | rs759781200 |
scholar | rs759781200 |
rs759781200 | |
pharmgkb | rs759781200 |
gwascentral | rs759781200 |
openSNP | rs759781200 |
23andMe | rs759781200 |
SNPshot | rs759781200 |
SNPdbe | rs759781200 |
MSV3d | rs759781200 |
GWAS Ctlg | rs759781200 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs759781200(A;A) |
Alt | rs759781200(A;A) |
Reference | Rs759781200(G;G) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa 49 |
Variation | info |
Gene | CNGA1 LOC101927157 |
CLNDBN | Retinitis pigmentosa 49 |
Reversed | 0 |
HGVS | NC_000004.11:g.47942792G>A |
CLNSRC | |
CLNACC | RCV000199453.1, |