rs796051865
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GATATGGCCAGGGGTCACT;GATATGGCCAGGGGTCACT) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
(TGGCCAGGGGTCACTGATA;TGGCCAGGGGTCACTGATA) | 0 | common in clinvar |
Make rs796051865(-;-) |
Make rs796051865(-;TGGCCAGGGGTCACTGATA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 5 |
Position | 91153328 |
Gene | ADGRV1, LOC107986432 |
is a | snp |
is | mentioned by |
dbSNP | rs796051865 |
dbSNP (classic) | rs796051865 |
ClinGen | rs796051865 |
ebi | rs796051865 |
HLI | rs796051865 |
Exac | rs796051865 |
Gnomad | rs796051865 |
Varsome | rs796051865 |
LitVar | rs796051865 |
Map | rs796051865 |
PheGenI | rs796051865 |
Biobank | rs796051865 |
1000 genomes | rs796051865 |
hgdp | rs796051865 |
ensembl | rs796051865 |
geneview | rs796051865 |
scholar | rs796051865 |
rs796051865 | |
pharmgkb | rs796051865 |
gwascentral | rs796051865 |
openSNP | rs796051865 |
23andMe | rs796051865 |
SNPshot | rs796051865 |
SNPdbe | rs796051865 |
MSV3d | rs796051865 |
GWAS Ctlg | rs796051865 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796051865(-;-) Rs796051865(GATATGGCCAGGGGTCACT;GATATGGCCAGGGGTCACT) |
Alt | rs796051865(-;-) Rs796051865(GATATGGCCAGGGGTCACT;GATATGGCCAGGGGTCACT) |
Reference | Rs796051865(TGGCCAGGGGTCACTGATA;TGGCCAGGGGTCACTGATA) |
Significance | Pathogenic |
Disease | Usher syndrome |
Variation | info |
Gene | ADGRV1 GPR98 |
CLNDBN | Usher syndrome, type 2C |
Reversed | 0 |
HGVS | NC_000005.9:g.90449145_90449163del19 |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007203.5, |