rs61749755
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs61749755(C;C) |
Make rs61749755(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 8009531 |
Gene | GUCY2D |
is a | snp |
is | mentioned by |
dbSNP | rs61749755 |
dbSNP (classic) | rs61749755 |
ClinGen | rs61749755 |
ebi | rs61749755 |
HLI | rs61749755 |
Exac | rs61749755 |
Gnomad | rs61749755 |
Varsome | rs61749755 |
LitVar | rs61749755 |
Map | rs61749755 |
PheGenI | rs61749755 |
Biobank | rs61749755 |
1000 genomes | rs61749755 |
hgdp | rs61749755 |
ensembl | rs61749755 |
geneview | rs61749755 |
scholar | rs61749755 |
rs61749755 | |
pharmgkb | rs61749755 |
gwascentral | rs61749755 |
openSNP | rs61749755 |
23andMe | rs61749755 |
SNPshot | rs61749755 |
SNPdbe | rs61749755 |
MSV3d | rs61749755 |
GWAS Ctlg | rs61749755 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61749755(C;C) |
Alt | rs61749755(C;C) |
Reference | Rs61749755(T;T) |
Significance | Pathogenic |
Disease | Leber congenital amaurosis 1 not provided |
Variation | info |
Gene | GUCY2D |
CLNDBN | Leber congenital amaurosis 1 not provided |
Reversed | 0 |
HGVS | NC_000017.10:g.7912849T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000009944.4, RCV000084839.1, |