rs121909076
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs121909076(C;C) |
Make rs121909076(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 35503816 |
Gene | TULP1 |
is a | snp |
is | mentioned by |
dbSNP | rs121909076 |
dbSNP (classic) | rs121909076 |
ClinGen | rs121909076 |
ebi | rs121909076 |
HLI | rs121909076 |
Exac | rs121909076 |
Gnomad | rs121909076 |
Varsome | rs121909076 |
LitVar | rs121909076 |
Map | rs121909076 |
PheGenI | rs121909076 |
Biobank | rs121909076 |
1000 genomes | rs121909076 |
hgdp | rs121909076 |
ensembl | rs121909076 |
geneview | rs121909076 |
scholar | rs121909076 |
rs121909076 | |
pharmgkb | rs121909076 |
gwascentral | rs121909076 |
openSNP | rs121909076 |
23andMe | rs121909076 |
SNPshot | rs121909076 |
SNPdbe | rs121909076 |
MSV3d | rs121909076 |
GWAS Ctlg | rs121909076 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121909076(C;C) |
Alt | rs121909076(C;C) |
Reference | Rs121909076(T;T) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa 14 Retinitis pigmentosa |
Variation | info |
Gene | TULP1 |
CLNDBN | Retinitis pigmentosa 14 Retinitis pigmentosa |
Reversed | 1 |
HGVS | NC_000006.11:g.35471593A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000007787.4, RCV000132649.1, |