rs397518011
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs397518011(A;A) |
Make rs397518011(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 216207280 |
Gene | LOC105372918, USH2A |
is a | snp |
is | mentioned by |
dbSNP | rs397518011 |
dbSNP (classic) | rs397518011 |
ClinGen | rs397518011 |
ebi | rs397518011 |
HLI | rs397518011 |
Exac | rs397518011 |
Gnomad | rs397518011 |
Varsome | rs397518011 |
LitVar | rs397518011 |
Map | rs397518011 |
PheGenI | rs397518011 |
Biobank | rs397518011 |
1000 genomes | rs397518011 |
hgdp | rs397518011 |
ensembl | rs397518011 |
geneview | rs397518011 |
scholar | rs397518011 |
rs397518011 | |
pharmgkb | rs397518011 |
gwascentral | rs397518011 |
openSNP | rs397518011 |
23andMe | rs397518011 |
SNPshot | rs397518011 |
SNPdbe | rs397518011 |
MSV3d | rs397518011 |
GWAS Ctlg | rs397518011 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397518011(A;A) |
Alt | rs397518011(A;A) |
Reference | Rs397518011(C;C) |
Significance | Pathogenic |
Disease | Usher syndrome |
Variation | info |
Gene | USH2A |
CLNDBN | Usher syndrome, type 2A |
Reversed | 1 |
HGVS | NC_000001.10:g.216380622G>T |
CLNSRC | ClinVar |
CLNACC | RCV000041825.2, |