rs527236138
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs527236138(C;T) |
Make rs527236138(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 1 |
Position | 215680364 |
Gene | USH2A |
is a | snp |
is | mentioned by |
dbSNP | rs527236138 |
dbSNP (classic) | rs527236138 |
ClinGen | rs527236138 |
ebi | rs527236138 |
HLI | rs527236138 |
Exac | rs527236138 |
Gnomad | rs527236138 |
Varsome | rs527236138 |
LitVar | rs527236138 |
Map | rs527236138 |
PheGenI | rs527236138 |
Biobank | rs527236138 |
1000 genomes | rs527236138 |
hgdp | rs527236138 |
ensembl | rs527236138 |
geneview | rs527236138 |
scholar | rs527236138 |
rs527236138 | |
pharmgkb | rs527236138 |
gwascentral | rs527236138 |
openSNP | rs527236138 |
23andMe | rs527236138 |
SNPshot | rs527236138 |
SNPdbe | rs527236138 |
MSV3d | rs527236138 |
GWAS Ctlg | rs527236138 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs527236138(T;T) |
Alt | rs527236138(T;T) |
Reference | Rs527236138(C;C) |
Significance | Probable-Pathogenic |
Disease | Usher syndrome |
Variation | info |
Gene | USH2A |
CLNDBN | Usher syndrome, type 2A |
Reversed | 1 |
HGVS | NC_000001.10:g.215853706G>A |
CLNSRC | ClinVar |
CLNACC | RCV000132702.1, |