rs111033518
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs111033518(A;A) |
Make rs111033518(A;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 215675619 |
Gene | USH2A |
is a | snp |
is | mentioned by |
dbSNP | rs111033518 |
dbSNP (classic) | rs111033518 |
ClinGen | rs111033518 |
ebi | rs111033518 |
HLI | rs111033518 |
Exac | rs111033518 |
Gnomad | rs111033518 |
Varsome | rs111033518 |
LitVar | rs111033518 |
Map | rs111033518 |
PheGenI | rs111033518 |
Biobank | rs111033518 |
1000 genomes | rs111033518 |
hgdp | rs111033518 |
ensembl | rs111033518 |
geneview | rs111033518 |
scholar | rs111033518 |
rs111033518 | |
pharmgkb | rs111033518 |
gwascentral | rs111033518 |
openSNP | rs111033518 |
23andMe | rs111033518 |
SNPshot | rs111033518 |
SNPdbe | rs111033518 |
MSV3d | rs111033518 |
GWAS Ctlg | rs111033518 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs111033518(A;A) |
Alt | rs111033518(A;A) |
Reference | Rs111033518(T;T) |
Significance | Pathogenic |
Disease | not specified Usher syndrome not provided |
Variation | info |
Gene | USH2A |
CLNDBN | not specified Usher syndrome, type 2A not provided |
Reversed | 1 |
HGVS | NC_000001.10:g.215848961A>T |
CLNSRC | |
CLNACC | RCV000041717.3, RCV000179631.1, RCV000414389.1, |