rs121918590
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CTG;CTG) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
(TGC;TGC) | 0 | common in clinvar |
Make rs121918590(-;-) |
Make rs121918590(-;TGC) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 129532626 |
Gene | RHO |
is a | snp |
is | mentioned by |
dbSNP | rs121918590 |
dbSNP (classic) | rs121918590 |
ClinGen | rs121918590 |
ebi | rs121918590 |
HLI | rs121918590 |
Exac | rs121918590 |
Gnomad | rs121918590 |
Varsome | rs121918590 |
LitVar | rs121918590 |
Map | rs121918590 |
PheGenI | rs121918590 |
Biobank | rs121918590 |
1000 genomes | rs121918590 |
hgdp | rs121918590 |
ensembl | rs121918590 |
geneview | rs121918590 |
scholar | rs121918590 |
rs121918590 | |
pharmgkb | rs121918590 |
gwascentral | rs121918590 |
openSNP | rs121918590 |
23andMe | rs121918590 |
SNPshot | rs121918590 |
SNPdbe | rs121918590 |
MSV3d | rs121918590 |
GWAS Ctlg | rs121918590 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121918590(-;-) |
Alt | rs121918590(-;-) |
Reference | Rs121918590(CTG;CTG) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa 4 |
Variation | info |
Gene | RHO |
CLNDBN | Retinitis pigmentosa 4 |
Reversed | 0 |
HGVS | NC_000003.11:g.129251469_129251471delTGC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000013926.24, |