rs483352866
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs483352866(C;T) |
Make rs483352866(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 16 |
Position | 2496681 |
Gene | TBC1D24 |
is a | snp |
is | mentioned by |
dbSNP | rs483352866 |
dbSNP (classic) | rs483352866 |
ClinGen | rs483352866 |
ebi | rs483352866 |
HLI | rs483352866 |
Exac | rs483352866 |
Gnomad | rs483352866 |
Varsome | rs483352866 |
LitVar | rs483352866 |
Map | rs483352866 |
PheGenI | rs483352866 |
Biobank | rs483352866 |
1000 genomes | rs483352866 |
hgdp | rs483352866 |
ensembl | rs483352866 |
geneview | rs483352866 |
scholar | rs483352866 |
rs483352866 | |
pharmgkb | rs483352866 |
gwascentral | rs483352866 |
openSNP | rs483352866 |
23andMe | rs483352866 |
SNPshot | rs483352866 |
SNPdbe | rs483352866 |
MSV3d | rs483352866 |
GWAS Ctlg | rs483352866 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs483352866(T;T) |
Alt | rs483352866(T;T) |
Reference | Rs483352866(C;C) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | TBC1D24 |
CLNDBN | Deafness, autosomal recessive 86 Deafness, autosomal dominant 65 |
Reversed | 0 |
HGVS | NC_000016.9:g.2546682C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000119776.1, RCV000144534.2, |