rs151148854
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs151148854(C;C) |
Make rs151148854(C;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 1 |
Position | 215675618 |
Gene | USH2A |
is a | snp |
is | mentioned by |
dbSNP | rs151148854 |
dbSNP (classic) | rs151148854 |
ClinGen | rs151148854 |
ebi | rs151148854 |
HLI | rs151148854 |
Exac | rs151148854 |
Gnomad | rs151148854 |
Varsome | rs151148854 |
LitVar | rs151148854 |
Map | rs151148854 |
PheGenI | rs151148854 |
Biobank | rs151148854 |
1000 genomes | rs151148854 |
hgdp | rs151148854 |
ensembl | rs151148854 |
geneview | rs151148854 |
scholar | rs151148854 |
rs151148854 | |
pharmgkb | rs151148854 |
gwascentral | rs151148854 |
openSNP | rs151148854 |
23andMe | rs151148854 |
SNPshot | rs151148854 |
SNPdbe | rs151148854 |
MSV3d | rs151148854 |
GWAS Ctlg | rs151148854 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs151148854(C;C) |
Alt | rs151148854(C;C) |
Reference | Rs151148854(T;T) |
Significance | Pathogenic |
Disease | Usher syndrome |
Variation | info |
Gene | USH2A |
CLNDBN | Usher syndrome, type 2A |
Reversed | 0 |
HGVS | NC_000001.10:g.215848960T>C |
CLNSRC | ClinVar |
CLNACC | RCV000041714.2, |