rs796051882
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs796051882(A;G) |
Make rs796051882(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 4 |
Position | 15988237 |
Gene | PROM1 |
is a | snp |
is | mentioned by |
dbSNP | rs796051882 |
dbSNP (classic) | rs796051882 |
ClinGen | rs796051882 |
ebi | rs796051882 |
HLI | rs796051882 |
Exac | rs796051882 |
Gnomad | rs796051882 |
Varsome | rs796051882 |
LitVar | rs796051882 |
Map | rs796051882 |
PheGenI | rs796051882 |
Biobank | rs796051882 |
1000 genomes | rs796051882 |
hgdp | rs796051882 |
ensembl | rs796051882 |
geneview | rs796051882 |
scholar | rs796051882 |
rs796051882 | |
pharmgkb | rs796051882 |
gwascentral | rs796051882 |
openSNP | rs796051882 |
23andMe | rs796051882 |
SNPshot | rs796051882 |
SNPdbe | rs796051882 |
MSV3d | rs796051882 |
GWAS Ctlg | rs796051882 |
Max Magnitude | 0 |
Non-coding variant assessed as part of Blueprint Genetics Retinal dystrophy (266 gene) panel.
ClinVar | |
---|---|
Risk | rs796051882(G;G) |
Alt | rs796051882(G;G) |
Reference | Rs796051882(A;A) |
Significance | Pathogenic |
Disease | Cone-rod dystrophy 2 |
Variation | info |
Gene | PROM1 |
CLNDBN | Cone-rod dystrophy 2 |
Reversed | 1 |
HGVS | NC_000004.11:g.15989860T>C |
CLNSRC | |
CLNACC | RCV000186496.2, |