rs121912552
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121912552(C;C) |
Make rs121912552(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 128398562 |
Gene | IMPDH1 |
is a | snp |
is | mentioned by |
dbSNP | rs121912552 |
dbSNP (classic) | rs121912552 |
ClinGen | rs121912552 |
ebi | rs121912552 |
HLI | rs121912552 |
Exac | rs121912552 |
Gnomad | rs121912552 |
Varsome | rs121912552 |
LitVar | rs121912552 |
Map | rs121912552 |
PheGenI | rs121912552 |
Biobank | rs121912552 |
1000 genomes | rs121912552 |
hgdp | rs121912552 |
ensembl | rs121912552 |
geneview | rs121912552 |
scholar | rs121912552 |
rs121912552 | |
pharmgkb | rs121912552 |
gwascentral | rs121912552 |
openSNP | rs121912552 |
23andMe | rs121912552 |
SNPshot | rs121912552 |
SNPdbe | rs121912552 |
MSV3d | rs121912552 |
GWAS Ctlg | rs121912552 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121912552(C;C) |
Alt | rs121912552(C;C) |
Reference | Rs121912552(G;G) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa 10 |
Variation | info |
Gene | IMPDH1 |
CLNDBN | Retinitis pigmentosa 10 |
Reversed | 1 |
HGVS | NC_000007.13:g.128038616C>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000015961.25, |