rs786200910
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs786200910(A;G) |
Make rs786200910(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 10 |
Position | 93640068 |
Gene | PDE6C |
is a | snp |
is | mentioned by |
dbSNP | rs786200910 |
dbSNP (classic) | rs786200910 |
ClinGen | rs786200910 |
ebi | rs786200910 |
HLI | rs786200910 |
Exac | rs786200910 |
Gnomad | rs786200910 |
Varsome | rs786200910 |
LitVar | rs786200910 |
Map | rs786200910 |
PheGenI | rs786200910 |
Biobank | rs786200910 |
1000 genomes | rs786200910 |
hgdp | rs786200910 |
ensembl | rs786200910 |
geneview | rs786200910 |
scholar | rs786200910 |
rs786200910 | |
pharmgkb | rs786200910 |
gwascentral | rs786200910 |
openSNP | rs786200910 |
23andMe | rs786200910 |
SNPshot | rs786200910 |
SNPdbe | rs786200910 |
MSV3d | rs786200910 |
GWAS Ctlg | rs786200910 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786200910(G;G) |
Alt | rs786200910(G;G) |
Reference | Rs786200910(A;A) |
Significance | Pathogenic |
Disease | Achromatopsia 5 |
Variation | info |
Gene | PDE6C |
CLNDBN | Achromatopsia 5 |
Reversed | 0 |
HGVS | NC_000010.10:g.95399825A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000009316.5, |