rs878853231
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs878853231(-;G) |
Make rs878853231(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 18 |
Position | 46485120 |
Gene | LOXHD1 |
is a | snp |
is | mentioned by |
dbSNP | rs878853231 |
dbSNP (classic) | rs878853231 |
ClinGen | rs878853231 |
ebi | rs878853231 |
HLI | rs878853231 |
Exac | rs878853231 |
Gnomad | rs878853231 |
Varsome | rs878853231 |
LitVar | rs878853231 |
Map | rs878853231 |
PheGenI | rs878853231 |
Biobank | rs878853231 |
1000 genomes | rs878853231 |
hgdp | rs878853231 |
ensembl | rs878853231 |
geneview | rs878853231 |
scholar | rs878853231 |
rs878853231 | |
pharmgkb | rs878853231 |
gwascentral | rs878853231 |
openSNP | rs878853231 |
23andMe | rs878853231 |
SNPshot | rs878853231 |
SNPdbe | rs878853231 |
MSV3d | rs878853231 |
GWAS Ctlg | rs878853231 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs878853231(G;G) |
Alt | rs878853231(G;G) |
Reference | Rs878853231(-;-) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | LOXHD1 |
CLNDBN | Deafness, autosomal recessive 77 |
Reversed | 1 |
HGVS | NC_000018.9:g.44065084dupC |
CLNSRC | |
CLNACC | RCV000225070.1, |