rs188119157
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs188119157(G;T) |
Make rs188119157(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 18 |
Position | 46563166 |
Gene | LOXHD1 |
is a | snp |
is | mentioned by |
dbSNP | rs188119157 |
dbSNP (classic) | rs188119157 |
ClinGen | rs188119157 |
ebi | rs188119157 |
HLI | rs188119157 |
Exac | rs188119157 |
Gnomad | rs188119157 |
Varsome | rs188119157 |
LitVar | rs188119157 |
Map | rs188119157 |
PheGenI | rs188119157 |
Biobank | rs188119157 |
1000 genomes | rs188119157 |
hgdp | rs188119157 |
ensembl | rs188119157 |
geneview | rs188119157 |
scholar | rs188119157 |
rs188119157 | |
pharmgkb | rs188119157 |
gwascentral | rs188119157 |
openSNP | rs188119157 |
23andMe | rs188119157 |
SNPshot | rs188119157 |
SNPdbe | rs188119157 |
MSV3d | rs188119157 |
GWAS Ctlg | rs188119157 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs188119157(A;A) rs188119157(T;T) |
Alt | rs188119157(A;A) rs188119157(T;T) |
Reference | Rs188119157(G;G) |
Significance | Pathogenic |
Disease | Nonsyndromic hearing loss and deafness |
Variation | info |
Gene | LOXHD1 |
CLNDBN | Nonsyndromic hearing loss and deafness |
Reversed | 0 |
HGVS | NC_000018.9:g.44143129G>A |
CLNSRC | ClinVar |
CLNACC | RCV000041202.2, |