rs775177930
From SNPedia
Orientation | plus |
Stabilized | plus |
Make rs775177930(C;C) |
Make rs775177930(C;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 216200070 |
Gene | LOC105372918, USH2A |
is a | snp |
is | mentioned by |
dbSNP | rs775177930 |
dbSNP (classic) | rs775177930 |
ClinGen | rs775177930 |
ebi | rs775177930 |
HLI | rs775177930 |
Exac | rs775177930 |
Gnomad | rs775177930 |
Varsome | rs775177930 |
LitVar | rs775177930 |
Map | rs775177930 |
PheGenI | rs775177930 |
Biobank | rs775177930 |
1000 genomes | rs775177930 |
hgdp | rs775177930 |
ensembl | rs775177930 |
geneview | rs775177930 |
scholar | rs775177930 |
rs775177930 | |
pharmgkb | rs775177930 |
gwascentral | rs775177930 |
openSNP | rs775177930 |
23andMe | rs775177930 |
SNPshot | rs775177930 |
SNPdbe | rs775177930 |
MSV3d | rs775177930 |
GWAS Ctlg | rs775177930 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs775177930(C;C) |
Alt | rs775177930(C;C) |
Reference | Rs775177930(T;T) |
Significance | Pathogenic |
Disease | Nonsyndromic hearing loss and deafness |
Variation | info |
Gene | USH2A |
CLNDBN | Nonsyndromic hearing loss and deafness |
Reversed | 0 |
HGVS | NC_000001.10:g.216373412T>C |
CLNSRC | |
CLNACC | RCV000225035.1, |