rs727503146
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs727503146(-;-) |
Make rs727503146(-;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 18 |
Position | 46566391 |
Gene | LOXHD1 |
is a | snp |
is | mentioned by |
dbSNP | rs727503146 |
dbSNP (classic) | rs727503146 |
ClinGen | rs727503146 |
ebi | rs727503146 |
HLI | rs727503146 |
Exac | rs727503146 |
Gnomad | rs727503146 |
Varsome | rs727503146 |
LitVar | rs727503146 |
Map | rs727503146 |
PheGenI | rs727503146 |
Biobank | rs727503146 |
1000 genomes | rs727503146 |
hgdp | rs727503146 |
ensembl | rs727503146 |
geneview | rs727503146 |
scholar | rs727503146 |
rs727503146 | |
pharmgkb | rs727503146 |
gwascentral | rs727503146 |
openSNP | rs727503146 |
23andMe | rs727503146 |
SNPshot | rs727503146 |
SNPdbe | rs727503146 |
MSV3d | rs727503146 |
GWAS Ctlg | rs727503146 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727503146(-;-) |
Alt | rs727503146(-;-) |
Reference | Rs727503146(G;G) |
Significance | Pathogenic |
Disease | Nonsyndromic hearing loss and deafness |
Variation | info |
Gene | LOXHD1 |
CLNDBN | Nonsyndromic hearing loss and deafness |
Reversed | 1 |
HGVS | NC_000018.9:g.44146354delC |
CLNSRC | |
CLNACC | RCV000150981.1, |