rs768835732
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs768835732(C;T) |
Make rs768835732(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 18 |
Position | 46524499 |
Gene | LOXHD1 |
is a | snp |
is | mentioned by |
dbSNP | rs768835732 |
dbSNP (classic) | rs768835732 |
ClinGen | rs768835732 |
ebi | rs768835732 |
HLI | rs768835732 |
Exac | rs768835732 |
Gnomad | rs768835732 |
Varsome | rs768835732 |
LitVar | rs768835732 |
Map | rs768835732 |
PheGenI | rs768835732 |
Biobank | rs768835732 |
1000 genomes | rs768835732 |
hgdp | rs768835732 |
ensembl | rs768835732 |
geneview | rs768835732 |
scholar | rs768835732 |
rs768835732 | |
pharmgkb | rs768835732 |
gwascentral | rs768835732 |
openSNP | rs768835732 |
23andMe | rs768835732 |
SNPshot | rs768835732 |
SNPdbe | rs768835732 |
MSV3d | rs768835732 |
GWAS Ctlg | rs768835732 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs768835732(G;G) rs768835732(T;T) |
Alt | rs768835732(G;G) rs768835732(T;T) |
Reference | Rs768835732(C;C) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | LOXHD1 |
CLNDBN | Deafness, autosomal recessive 77 |
Reversed | 0 |
HGVS | NC_000018.9:g.44104462C>T |
CLNSRC | |
CLNACC | RCV000454364.1, |