rs61749665
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs61749665(G;T) |
Make rs61749665(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 8003201 |
Gene | GUCY2D |
is a | snp |
is | mentioned by |
dbSNP | rs61749665 |
dbSNP (classic) | rs61749665 |
ClinGen | rs61749665 |
ebi | rs61749665 |
HLI | rs61749665 |
Exac | rs61749665 |
Gnomad | rs61749665 |
Varsome | rs61749665 |
LitVar | rs61749665 |
Map | rs61749665 |
PheGenI | rs61749665 |
Biobank | rs61749665 |
1000 genomes | rs61749665 |
hgdp | rs61749665 |
ensembl | rs61749665 |
geneview | rs61749665 |
scholar | rs61749665 |
rs61749665 | |
pharmgkb | rs61749665 |
gwascentral | rs61749665 |
openSNP | rs61749665 |
23andMe | rs61749665 |
SNPshot | rs61749665 |
SNPdbe | rs61749665 |
MSV3d | rs61749665 |
GWAS Ctlg | rs61749665 |
GMAF | 0.3765 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61749665(T;T) |
Alt | rs61749665(T;T) |
Reference | Rs61749665(G;G) |
Significance | Probable-non-pathogenic |
Disease | Leber congenital amaurosis 1 not specified not provided |
Variation | info |
Gene | GUCY2D |
CLNDBN | Leber congenital amaurosis 1 not specified not provided |
Reversed | 0 |
HGVS | NC_000017.10:g.7906519G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000009947.1, RCV000078318.6, RCV000084835.2, |