rs61750173
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs61750173(A;A) |
Make rs61750173(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 8014701 |
Gene | GUCY2D |
is a | snp |
is | mentioned by |
dbSNP | rs61750173 |
dbSNP (classic) | rs61750173 |
ClinGen | rs61750173 |
ebi | rs61750173 |
HLI | rs61750173 |
Exac | rs61750173 |
Gnomad | rs61750173 |
Varsome | rs61750173 |
LitVar | rs61750173 |
Map | rs61750173 |
PheGenI | rs61750173 |
Biobank | rs61750173 |
1000 genomes | rs61750173 |
hgdp | rs61750173 |
ensembl | rs61750173 |
geneview | rs61750173 |
scholar | rs61750173 |
rs61750173 | |
pharmgkb | rs61750173 |
gwascentral | rs61750173 |
openSNP | rs61750173 |
23andMe | rs61750173 |
SNPshot | rs61750173 |
SNPdbe | rs61750173 |
MSV3d | rs61750173 |
GWAS Ctlg | rs61750173 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61750173(A;A) |
Alt | rs61750173(A;A) |
Reference | Rs61750173(G;G) |
Significance | Pathogenic |
Disease | Cone-rod dystrophy 6 not provided |
Variation | info |
Gene | GUCY2D |
CLNDBN | Cone-rod dystrophy 6 not provided |
Reversed | 0 |
HGVS | NC_000017.10:g.7918019G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000009951.2, RCV000084863.1, |