rs397517978
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs397517978(A;G) |
Make rs397517978(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 215680378 |
Gene | USH2A |
is a | snp |
is | mentioned by |
dbSNP | rs397517978 |
dbSNP (classic) | rs397517978 |
ClinGen | rs397517978 |
ebi | rs397517978 |
HLI | rs397517978 |
Exac | rs397517978 |
Gnomad | rs397517978 |
Varsome | rs397517978 |
LitVar | rs397517978 |
Map | rs397517978 |
PheGenI | rs397517978 |
Biobank | rs397517978 |
1000 genomes | rs397517978 |
hgdp | rs397517978 |
ensembl | rs397517978 |
geneview | rs397517978 |
scholar | rs397517978 |
rs397517978 | |
pharmgkb | rs397517978 |
gwascentral | rs397517978 |
openSNP | rs397517978 |
23andMe | rs397517978 |
SNPshot | rs397517978 |
SNPdbe | rs397517978 |
MSV3d | rs397517978 |
GWAS Ctlg | rs397517978 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397517978(G;G) |
Alt | rs397517978(G;G) |
Reference | Rs397517978(A;A) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa 39 Usher syndrome not provided |
Variation | info |
Gene | USH2A |
CLNDBN | Retinitis pigmentosa 39 Usher syndrome, type 2A not provided |
Reversed | 1 |
HGVS | NC_000001.10:g.215853720T>C |
CLNSRC | ClinVar |
CLNACC | RCV000041712.2, RCV000390593.1, RCV000412841.1, |