rs137853020
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs137853020(C;C) |
Make rs137853020(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 2660912 |
Gene | IDH3B |
is a | snp |
is | mentioned by |
dbSNP | rs137853020 |
dbSNP (classic) | rs137853020 |
ClinGen | rs137853020 |
ebi | rs137853020 |
HLI | rs137853020 |
Exac | rs137853020 |
Gnomad | rs137853020 |
Varsome | rs137853020 |
LitVar | rs137853020 |
Map | rs137853020 |
PheGenI | rs137853020 |
Biobank | rs137853020 |
1000 genomes | rs137853020 |
hgdp | rs137853020 |
ensembl | rs137853020 |
geneview | rs137853020 |
scholar | rs137853020 |
rs137853020 | |
pharmgkb | rs137853020 |
gwascentral | rs137853020 |
openSNP | rs137853020 |
23andMe | rs137853020 |
SNPshot | rs137853020 |
SNPdbe | rs137853020 |
MSV3d | rs137853020 |
GWAS Ctlg | rs137853020 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137853020(C;C) |
Alt | rs137853020(C;C) |
Reference | Rs137853020(T;T) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa 46 |
Variation | info |
Gene | IDH3B |
CLNDBN | Retinitis pigmentosa 46 |
Reversed | 1 |
HGVS | NC_000020.10:g.2641558A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000005841.2, |