rs397518013
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AT;AT) | 0 | common in clinvar |
Make rs397518013(-;-) |
Make rs397518013(-;AT) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 216199890 |
Gene | LOC105372918, USH2A |
is a | snp |
is | mentioned by |
dbSNP | rs397518013 |
dbSNP (classic) | rs397518013 |
ClinGen | rs397518013 |
ebi | rs397518013 |
HLI | rs397518013 |
Exac | rs397518013 |
Gnomad | rs397518013 |
Varsome | rs397518013 |
LitVar | rs397518013 |
Map | rs397518013 |
PheGenI | rs397518013 |
Biobank | rs397518013 |
1000 genomes | rs397518013 |
hgdp | rs397518013 |
ensembl | rs397518013 |
geneview | rs397518013 |
scholar | rs397518013 |
rs397518013 | |
pharmgkb | rs397518013 |
gwascentral | rs397518013 |
openSNP | rs397518013 |
23andMe | rs397518013 |
SNPshot | rs397518013 |
SNPdbe | rs397518013 |
MSV3d | rs397518013 |
GWAS Ctlg | rs397518013 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397518013(-;-) |
Alt | rs397518013(-;-) |
Reference | Rs397518013(AT;AT) |
Significance | Other |
Disease | Usher syndrome USH2A-Related Disorders Retinitis pigmentosa 39 |
Variation | info |
Gene | USH2A |
CLNDBN | Usher syndrome, type 2A USH2A-Related Disorders Retinitis pigmentosa 39 |
Reversed | 1 |
HGVS | NC_000001.10:g.216373232_216373233delAT |
CLNSRC | ClinVar |
CLNACC | RCV000041829.2, RCV000301597.1, RCV000410392.1, |