rs121909124
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121909124(A;A) |
Make rs121909124(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 42185686 |
Gene | GUCA1B |
is a | snp |
is | mentioned by |
dbSNP | rs121909124 |
dbSNP (classic) | rs121909124 |
ClinGen | rs121909124 |
ebi | rs121909124 |
HLI | rs121909124 |
Exac | rs121909124 |
Gnomad | rs121909124 |
Varsome | rs121909124 |
LitVar | rs121909124 |
Map | rs121909124 |
PheGenI | rs121909124 |
Biobank | rs121909124 |
1000 genomes | rs121909124 |
hgdp | rs121909124 |
ensembl | rs121909124 |
geneview | rs121909124 |
scholar | rs121909124 |
rs121909124 | |
pharmgkb | rs121909124 |
gwascentral | rs121909124 |
openSNP | rs121909124 |
23andMe | rs121909124 |
SNPshot | rs121909124 |
SNPdbe | rs121909124 |
MSV3d | rs121909124 |
GWAS Ctlg | rs121909124 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121909124(A;A) |
Alt | rs121909124(A;A) |
Reference | Rs121909124(G;G) |
Significance | Other |
Disease | Retinitis pigmentosa 48 not provided Retinitis Pigmentosa |
Variation | info |
Gene | GUCA1B |
CLNDBN | Retinitis pigmentosa 48 not provided Retinitis Pigmentosa, Dominant |
Reversed | 1 |
HGVS | NC_000006.11:g.42153424C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000007794.2, RCV000132648.1, RCV000343566.1, |