rs796051871
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GTAAG;GTAAG) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
(TAAGG;TAAGG) | 0 | common in clinvar |
Make rs796051871(-;-) |
Make rs796051871(-;GTAAG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 10 |
Position | 93662644 |
Gene | PDE6C |
is a | snp |
is | mentioned by |
dbSNP | rs796051871 |
dbSNP (classic) | rs796051871 |
ClinGen | rs796051871 |
ebi | rs796051871 |
HLI | rs796051871 |
Exac | rs796051871 |
Gnomad | rs796051871 |
Varsome | rs796051871 |
LitVar | rs796051871 |
Map | rs796051871 |
PheGenI | rs796051871 |
Biobank | rs796051871 |
1000 genomes | rs796051871 |
hgdp | rs796051871 |
ensembl | rs796051871 |
geneview | rs796051871 |
scholar | rs796051871 |
rs796051871 | |
pharmgkb | rs796051871 |
gwascentral | rs796051871 |
openSNP | rs796051871 |
23andMe | rs796051871 |
SNPshot | rs796051871 |
SNPdbe | rs796051871 |
MSV3d | rs796051871 |
GWAS Ctlg | rs796051871 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796051871(-;-) Rs796051871(TAAGG;TAAGG) |
Alt | rs796051871(-;-) Rs796051871(TAAGG;TAAGG) |
Reference | Rs796051871(GTAAG;GTAAG) |
Significance | Pathogenic |
Disease | Achromatopsia 5 |
Variation | info |
Gene | PDE6C |
CLNDBN | Achromatopsia 5 |
Reversed | 0 |
HGVS | NC_000010.10:g.95422401_95422405delGTAAG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000009311.3, |