rs372989281
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs372989281(C;T) |
Make rs372989281(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 61958194 |
Gene | BEST1, LOC107984334 |
is a | snp |
is | mentioned by |
dbSNP | rs372989281 |
dbSNP (classic) | rs372989281 |
ClinGen | rs372989281 |
ebi | rs372989281 |
HLI | rs372989281 |
Exac | rs372989281 |
Gnomad | rs372989281 |
Varsome | rs372989281 |
LitVar | rs372989281 |
Map | rs372989281 |
PheGenI | rs372989281 |
Biobank | rs372989281 |
1000 genomes | rs372989281 |
hgdp | rs372989281 |
ensembl | rs372989281 |
geneview | rs372989281 |
scholar | rs372989281 |
rs372989281 | |
pharmgkb | rs372989281 |
gwascentral | rs372989281 |
openSNP | rs372989281 |
23andMe | rs372989281 |
SNPshot | rs372989281 |
SNPdbe | rs372989281 |
MSV3d | rs372989281 |
GWAS Ctlg | rs372989281 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs372989281(T;T) |
Alt | rs372989281(T;T) |
Reference | Rs372989281(C;C) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa |
Variation | info |
Gene | BEST1 |
CLNDBN | Retinitis pigmentosa |
Reversed | 0 |
HGVS | NC_000011.9:g.61725666C>T |
CLNSRC | ClinVar |
CLNACC | RCV000132651.1, |