rs75949023
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs75949023(G;T) |
Make rs75949023(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 18 |
Position | 46524734 |
Gene | LOXHD1 |
is a | snp |
is | mentioned by |
dbSNP | rs75949023 |
dbSNP (classic) | rs75949023 |
ClinGen | rs75949023 |
ebi | rs75949023 |
HLI | rs75949023 |
Exac | rs75949023 |
Gnomad | rs75949023 |
Varsome | rs75949023 |
LitVar | rs75949023 |
Map | rs75949023 |
PheGenI | rs75949023 |
Biobank | rs75949023 |
1000 genomes | rs75949023 |
hgdp | rs75949023 |
ensembl | rs75949023 |
geneview | rs75949023 |
scholar | rs75949023 |
rs75949023 | |
pharmgkb | rs75949023 |
gwascentral | rs75949023 |
openSNP | rs75949023 |
23andMe | rs75949023 |
SNPshot | rs75949023 |
SNPdbe | rs75949023 |
MSV3d | rs75949023 |
GWAS Ctlg | rs75949023 |
GMAF | 0.02388 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs75949023(A;A) rs75949023(T;T) |
Alt | rs75949023(A;A) rs75949023(T;T) |
Reference | Rs75949023(G;G) |
Significance | Pathogenic |
Disease | Deafness Nonsyndromic hearing loss and deafness not specified not provided |
Variation | info |
Gene | LOXHD1 |
CLNDBN | Deafness, autosomal recessive 77 Nonsyndromic hearing loss and deafness not specified not provided |
Reversed | 0 |
HGVS | NC_000018.9:g.44104697G>A; NC_000018.9:g.44104697G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000023981.4, RCV000211793.1, RCV000225012.1, RCV000041212.5, RCV000420867.1, |