rs760474458
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs760474458(C;C) |
Make rs760474458(C;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 16 |
Position | 2496267 |
Gene | TBC1D24 |
is a | snp |
is | mentioned by |
dbSNP | rs760474458 |
dbSNP (classic) | rs760474458 |
ClinGen | rs760474458 |
ebi | rs760474458 |
HLI | rs760474458 |
Exac | rs760474458 |
Gnomad | rs760474458 |
Varsome | rs760474458 |
LitVar | rs760474458 |
Map | rs760474458 |
PheGenI | rs760474458 |
Biobank | rs760474458 |
1000 genomes | rs760474458 |
hgdp | rs760474458 |
ensembl | rs760474458 |
geneview | rs760474458 |
scholar | rs760474458 |
rs760474458 | |
pharmgkb | rs760474458 |
gwascentral | rs760474458 |
openSNP | rs760474458 |
23andMe | rs760474458 |
SNPshot | rs760474458 |
SNPdbe | rs760474458 |
MSV3d | rs760474458 |
GWAS Ctlg | rs760474458 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs760474458(C;C) rs760474458(T;T) |
Alt | rs760474458(C;C) rs760474458(T;T) |
Reference | Rs760474458(G;G) |
Significance | Pathogenic |
Disease | Digitorenocerebral syndrome |
Variation | info |
Gene | TBC1D24 |
CLNDBN | Digitorenocerebral syndrome |
Reversed | 0 |
HGVS | NC_000016.9:g.2546268G>T |
CLNSRC | |
CLNACC | RCV000192066.1, |