rs370609551
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs370609551(A;A) |
Make rs370609551(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 26474532 |
Gene | OTOF |
is a | snp |
is | mentioned by |
dbSNP | rs370609551 |
dbSNP (classic) | rs370609551 |
ClinGen | rs370609551 |
ebi | rs370609551 |
HLI | rs370609551 |
Exac | rs370609551 |
Gnomad | rs370609551 |
Varsome | rs370609551 |
LitVar | rs370609551 |
Map | rs370609551 |
PheGenI | rs370609551 |
Biobank | rs370609551 |
1000 genomes | rs370609551 |
hgdp | rs370609551 |
ensembl | rs370609551 |
geneview | rs370609551 |
scholar | rs370609551 |
rs370609551 | |
pharmgkb | rs370609551 |
gwascentral | rs370609551 |
openSNP | rs370609551 |
23andMe | rs370609551 |
SNPshot | rs370609551 |
SNPdbe | rs370609551 |
MSV3d | rs370609551 |
GWAS Ctlg | rs370609551 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs370609551(A;A) rs370609551(T;T) |
Alt | rs370609551(A;A) rs370609551(T;T) |
Reference | Rs370609551(G;G) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | OTOF |
CLNDBN | Deafness, autosomal recessive 9 |
Reversed | 0 |
HGVS | NC_000002.11:g.26697400G>T |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000056036.1, |