rs377145777
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs377145777(A;A) |
Make rs377145777(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 11 |
Position | 17527256 |
Gene | USH1C |
is a | snp |
is | mentioned by |
dbSNP | rs377145777 |
dbSNP (classic) | rs377145777 |
ClinGen | rs377145777 |
ebi | rs377145777 |
HLI | rs377145777 |
Exac | rs377145777 |
Gnomad | rs377145777 |
Varsome | rs377145777 |
LitVar | rs377145777 |
Map | rs377145777 |
PheGenI | rs377145777 |
Biobank | rs377145777 |
1000 genomes | rs377145777 |
hgdp | rs377145777 |
ensembl | rs377145777 |
geneview | rs377145777 |
scholar | rs377145777 |
rs377145777 | |
pharmgkb | rs377145777 |
gwascentral | rs377145777 |
openSNP | rs377145777 |
23andMe | rs377145777 |
SNPshot | rs377145777 |
SNPdbe | rs377145777 |
MSV3d | rs377145777 |
GWAS Ctlg | rs377145777 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs377145777(A;A) |
Alt | rs377145777(A;A) |
Reference | Rs377145777(G;G) |
Significance | Probable-Pathogenic |
Disease | Deafness Usher syndrome |
Variation | info |
Gene | USH1C |
CLNDBN | Deafness, autosomal recessive 18 Usher syndrome, type 1C |
Reversed | 0 |
HGVS | NC_000011.9:g.17548803G>A |
CLNSRC | |
CLNACC | RCV000409966.1, RCV000412375.1, |