rs878853232
From SNPedia
Orientation | plus |
Stabilized | plus |
Make rs878853232(G;T) |
Make rs878853232(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 16 |
Position | 2496342 |
Gene | TBC1D24 |
is a | snp |
is | mentioned by |
dbSNP | rs878853232 |
dbSNP (classic) | rs878853232 |
ClinGen | rs878853232 |
ebi | rs878853232 |
HLI | rs878853232 |
Exac | rs878853232 |
Gnomad | rs878853232 |
Varsome | rs878853232 |
LitVar | rs878853232 |
Map | rs878853232 |
PheGenI | rs878853232 |
Biobank | rs878853232 |
1000 genomes | rs878853232 |
hgdp | rs878853232 |
ensembl | rs878853232 |
geneview | rs878853232 |
scholar | rs878853232 |
rs878853232 | |
pharmgkb | rs878853232 |
gwascentral | rs878853232 |
openSNP | rs878853232 |
23andMe | rs878853232 |
SNPshot | rs878853232 |
SNPdbe | rs878853232 |
MSV3d | rs878853232 |
GWAS Ctlg | rs878853232 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs878853232(T;T) |
Alt | rs878853232(T;T) |
Reference | Rs878853232(G;G) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | TBC1D24 |
CLNDBN | Deafness, autosomal recessive 86 |
Reversed | 0 |
HGVS | NC_000016.9:g.2546343G>T |
CLNSRC | |
CLNACC | RCV000225038.1, |