rs886043441
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Chromosome | 18 |
Position | 46601457 |
Gene | LOXHD1 |
is a | snp |
is | mentioned by |
dbSNP | rs886043441 |
dbSNP (classic) | rs886043441 |
ClinGen | rs886043441 |
ebi | rs886043441 |
HLI | rs886043441 |
Exac | rs886043441 |
Gnomad | rs886043441 |
Varsome | rs886043441 |
LitVar | rs886043441 |
Map | rs886043441 |
PheGenI | rs886043441 |
Biobank | rs886043441 |
1000 genomes | rs886043441 |
hgdp | rs886043441 |
ensembl | rs886043441 |
geneview | rs886043441 |
scholar | rs886043441 |
rs886043441 | |
pharmgkb | rs886043441 |
gwascentral | rs886043441 |
openSNP | rs886043441 |
23andMe | rs886043441 |
SNPshot | rs886043441 |
SNPdbe | rs886043441 |
MSV3d | rs886043441 |
GWAS Ctlg | rs886043441 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886043441(C;C) |
Alt | rs886043441(C;C) |
Reference | Rs886043441(A;A) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | LOXHD1 |
CLNDBN | Deafness, autosomal recessive 77 |
Reversed | 0 |
HGVS | NC_000018.9:g.44181420A>C |
CLNSRC | |
CLNACC | RCV000324693.1, |