rs111706634
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs111706634(C;T) |
Make rs111706634(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 178456149 |
Gene | DFNB59 |
is a | snp |
is | mentioned by |
dbSNP | rs111706634 |
dbSNP (classic) | rs111706634 |
ClinGen | rs111706634 |
ebi | rs111706634 |
HLI | rs111706634 |
Exac | rs111706634 |
Gnomad | rs111706634 |
Varsome | rs111706634 |
LitVar | rs111706634 |
Map | rs111706634 |
PheGenI | rs111706634 |
Biobank | rs111706634 |
1000 genomes | rs111706634 |
hgdp | rs111706634 |
ensembl | rs111706634 |
geneview | rs111706634 |
scholar | rs111706634 |
rs111706634 | |
pharmgkb | rs111706634 |
gwascentral | rs111706634 |
openSNP | rs111706634 |
23andMe | rs111706634 |
SNPshot | rs111706634 |
SNPdbe | rs111706634 |
MSV3d | rs111706634 |
GWAS Ctlg | rs111706634 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs111706634(A;A) rs111706634(T;T) |
Alt | rs111706634(A;A) rs111706634(T;T) |
Reference | Rs111706634(C;C) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | DFNB59 |
CLNDBN | Deafness, autosomal recessive 59 |
Reversed | 0 |
HGVS | NC_000002.11:g.179320876C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000001360.2, |