rs137954284
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs137954284(C;T) |
Make rs137954284(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 1 |
Position | 216250989 |
Gene | USH2A |
is a | snp |
is | mentioned by |
dbSNP | rs137954284 |
dbSNP (classic) | rs137954284 |
ClinGen | rs137954284 |
ebi | rs137954284 |
HLI | rs137954284 |
Exac | rs137954284 |
Gnomad | rs137954284 |
Varsome | rs137954284 |
LitVar | rs137954284 |
Map | rs137954284 |
PheGenI | rs137954284 |
Biobank | rs137954284 |
1000 genomes | rs137954284 |
hgdp | rs137954284 |
ensembl | rs137954284 |
geneview | rs137954284 |
scholar | rs137954284 |
rs137954284 | |
pharmgkb | rs137954284 |
gwascentral | rs137954284 |
openSNP | rs137954284 |
23andMe | rs137954284 |
SNPshot | rs137954284 |
SNPdbe | rs137954284 |
MSV3d | rs137954284 |
GWAS Ctlg | rs137954284 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137954284(T;T) |
Alt | rs137954284(T;T) |
Reference | Rs137954284(C;C) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | USH2A |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.216424331C>T |
CLNSRC | |
CLNACC | RCV000480360.1, |