rs373937326
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs373937326(A;A) |
Make rs373937326(A;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 18 |
Position | 46534448 |
Gene | LOXHD1 |
is a | snp |
is | mentioned by |
dbSNP | rs373937326 |
dbSNP (classic) | rs373937326 |
ClinGen | rs373937326 |
ebi | rs373937326 |
HLI | rs373937326 |
Exac | rs373937326 |
Gnomad | rs373937326 |
Varsome | rs373937326 |
LitVar | rs373937326 |
Map | rs373937326 |
PheGenI | rs373937326 |
Biobank | rs373937326 |
1000 genomes | rs373937326 |
hgdp | rs373937326 |
ensembl | rs373937326 |
geneview | rs373937326 |
scholar | rs373937326 |
rs373937326 | |
pharmgkb | rs373937326 |
gwascentral | rs373937326 |
openSNP | rs373937326 |
23andMe | rs373937326 |
SNPshot | rs373937326 |
SNPdbe | rs373937326 |
MSV3d | rs373937326 |
GWAS Ctlg | rs373937326 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs373937326(A;A) |
Alt | rs373937326(A;A) |
Reference | Rs373937326(C;C) |
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.44114411C>A |
CLNSRC | |
CLNACC | RCV000150972.1, |