rs121908370
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121908370(C;T) |
Make rs121908370(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 17533268 |
Gene | USH1C |
is a | snp |
is | mentioned by |
dbSNP | rs121908370 |
dbSNP (classic) | rs121908370 |
ClinGen | rs121908370 |
ebi | rs121908370 |
HLI | rs121908370 |
Exac | rs121908370 |
Gnomad | rs121908370 |
Varsome | rs121908370 |
LitVar | rs121908370 |
Map | rs121908370 |
PheGenI | rs121908370 |
Biobank | rs121908370 |
1000 genomes | rs121908370 |
hgdp | rs121908370 |
ensembl | rs121908370 |
geneview | rs121908370 |
scholar | rs121908370 |
rs121908370 | |
pharmgkb | rs121908370 |
gwascentral | rs121908370 |
openSNP | rs121908370 |
23andMe | rs121908370 |
SNPshot | rs121908370 |
SNPdbe | rs121908370 |
MSV3d | rs121908370 |
GWAS Ctlg | rs121908370 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908370(G;G) rs121908370(T;T) |
Alt | rs121908370(G;G) rs121908370(T;T) |
Reference | Rs121908370(C;C) |
Significance | Pathogenic |
Disease | Usher syndrome |
Variation | info |
Gene | USH1C |
CLNDBN | Usher syndrome, type 1C |
Reversed | 1 |
HGVS | NC_000011.9:g.17554815G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005453.2, |