rs28933993
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs28933993(A;C) |
Make rs28933993(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 129532352 |
Gene | RHO |
is a | snp |
is | mentioned by |
dbSNP | rs28933993 |
dbSNP (classic) | rs28933993 |
ClinGen | rs28933993 |
ebi | rs28933993 |
HLI | rs28933993 |
Exac | rs28933993 |
Gnomad | rs28933993 |
Varsome | rs28933993 |
LitVar | rs28933993 |
Map | rs28933993 |
PheGenI | rs28933993 |
Biobank | rs28933993 |
1000 genomes | rs28933993 |
hgdp | rs28933993 |
ensembl | rs28933993 |
geneview | rs28933993 |
scholar | rs28933993 |
rs28933993 | |
pharmgkb | rs28933993 |
gwascentral | rs28933993 |
openSNP | rs28933993 |
23andMe | rs28933993 |
SNPshot | rs28933993 |
SNPdbe | rs28933993 |
MSV3d | rs28933993 |
GWAS Ctlg | rs28933993 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28933993(C;C) |
Alt | rs28933993(C;C) |
Reference | Rs28933993(A;A) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa 4 |
Variation | info |
Gene | RHO |
CLNDBN | Retinitis pigmentosa 4 |
Reversed | 0 |
HGVS | NC_000003.11:g.129251195A>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000013901.24, |