rs104894187
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs104894187(A;C) |
Make rs104894187(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 84247707 |
Gene | RGR |
is a | snp |
is | mentioned by |
dbSNP | rs104894187 |
dbSNP (classic) | rs104894187 |
ClinGen | rs104894187 |
ebi | rs104894187 |
HLI | rs104894187 |
Exac | rs104894187 |
Gnomad | rs104894187 |
Varsome | rs104894187 |
LitVar | rs104894187 |
Map | rs104894187 |
PheGenI | rs104894187 |
Biobank | rs104894187 |
1000 genomes | rs104894187 |
hgdp | rs104894187 |
ensembl | rs104894187 |
geneview | rs104894187 |
scholar | rs104894187 |
rs104894187 | |
pharmgkb | rs104894187 |
gwascentral | rs104894187 |
openSNP | rs104894187 |
23andMe | rs104894187 |
SNPshot | rs104894187 |
SNPdbe | rs104894187 |
MSV3d | rs104894187 |
GWAS Ctlg | rs104894187 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894187(C;C) |
Alt | rs104894187(C;C) |
Reference | Rs104894187(A;A) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa 44 not specified |
Variation | info |
Gene | RGR |
CLNDBN | Retinitis pigmentosa 44 not specified |
Reversed | 0 |
HGVS | NC_000010.10:g.86007463A>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000009759.3, RCV000175649.2, |