rs527236102
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(ACCC;ACCC) | 0 | common in clinvar |
Make rs527236102(-;-) |
Make rs527236102(-;ACCC) |
Reference | GRCh38 38.1/142 |
Chromosome | 3 |
Position | 129533648 |
Gene | RHO |
is a | snp |
is | mentioned by |
dbSNP | rs527236102 |
dbSNP (classic) | rs527236102 |
ClinGen | rs527236102 |
ebi | rs527236102 |
HLI | rs527236102 |
Exac | rs527236102 |
Gnomad | rs527236102 |
Varsome | rs527236102 |
LitVar | rs527236102 |
Map | rs527236102 |
PheGenI | rs527236102 |
Biobank | rs527236102 |
1000 genomes | rs527236102 |
hgdp | rs527236102 |
ensembl | rs527236102 |
geneview | rs527236102 |
scholar | rs527236102 |
rs527236102 | |
pharmgkb | rs527236102 |
gwascentral | rs527236102 |
openSNP | rs527236102 |
23andMe | rs527236102 |
SNPshot | rs527236102 |
SNPdbe | rs527236102 |
MSV3d | rs527236102 |
GWAS Ctlg | rs527236102 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs527236102(-;-) |
Alt | rs527236102(-;-) |
Reference | Rs527236102(ACCC;ACCC) |
Significance | Probable-Pathogenic |
Disease | Retinitis pigmentosa |
Variation | info |
Gene | RHO |
CLNDBN | Retinitis pigmentosa |
Reversed | 0 |
HGVS | NC_000003.11:g.129252491_129252494delACCC |
CLNSRC | ClinVar |
CLNACC | RCV000132602.1, |