rs397518012
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs397518012(-;-) |
Make rs397518012(-;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 216200003 |
Gene | LOC105372918, USH2A |
is a | snp |
is | mentioned by |
dbSNP | rs397518012 |
dbSNP (classic) | rs397518012 |
ClinGen | rs397518012 |
ebi | rs397518012 |
HLI | rs397518012 |
Exac | rs397518012 |
Gnomad | rs397518012 |
Varsome | rs397518012 |
LitVar | rs397518012 |
Map | rs397518012 |
PheGenI | rs397518012 |
Biobank | rs397518012 |
1000 genomes | rs397518012 |
hgdp | rs397518012 |
ensembl | rs397518012 |
geneview | rs397518012 |
scholar | rs397518012 |
rs397518012 | |
pharmgkb | rs397518012 |
gwascentral | rs397518012 |
openSNP | rs397518012 |
23andMe | rs397518012 |
SNPshot | rs397518012 |
SNPdbe | rs397518012 |
MSV3d | rs397518012 |
GWAS Ctlg | rs397518012 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397518012(-;-) |
Alt | rs397518012(-;-) |
Reference | Rs397518012(A;A) |
Significance | Pathogenic |
Disease | Usher syndrome |
Variation | info |
Gene | USH2A |
CLNDBN | Usher syndrome, type 2A |
Reversed | 1 |
HGVS | NC_000001.10:g.216373345delT |
CLNSRC | ClinVar |
CLNACC | RCV000041828.2, |