rs3735972
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| (G;G) | 1.5 | |
| (T;T) | 0 |
| Make rs3735972(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 86575970 |
| Gene | CNGB3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3735972 |
| dbSNP (classic) | rs3735972 |
| ClinGen | rs3735972 |
| ebi | rs3735972 |
| HLI | rs3735972 |
| Exac | rs3735972 |
| Gnomad | rs3735972 |
| Varsome | rs3735972 |
| LitVar | rs3735972 |
| Map | rs3735972 |
| PheGenI | rs3735972 |
| Biobank | rs3735972 |
| 1000 genomes | rs3735972 |
| hgdp | rs3735972 |
| ensembl | rs3735972 |
| geneview | rs3735972 |
| scholar | rs3735972 |
| rs3735972 | |
| pharmgkb | rs3735972 |
| gwascentral | rs3735972 |
| openSNP | rs3735972 |
| 23andMe | rs3735972 |
| SNPshot | rs3735972 |
| SNPdbe | rs3735972 |
| MSV3d | rs3735972 |
| GWAS Ctlg | rs3735972 |
| GMAF | 0.08127 |
| Max Magnitude | 1.5 |
rs3735972, also known as E755G or Glu755Gly, is a SNP in the cyclic nucleotide gated-channel beta 3 CNGB3 gene.
Although this SNP causes an amino acid substitution, it is not known to have medical consequences, unlike some other SNPs in this same gene which are known to lead to various forms of color-blindness.[PMID 10958649]
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | Rs3735972(G;G) |
| Alt | Rs3735972(G;G) |
| Reference | Rs3735972(A;A) |
| Significance | Probable-non-pathogenic |
| Disease | not specified Stargardt Disease Achromatopsia |
| Variation | info |
| Gene | CNGB3 |
| CLNDBN | not specified Stargardt Disease, Recessive Achromatopsia |
| Reversed | 1 |
| HGVS | NC_000008.10:g.87588198T>C |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000153049.5, RCV000331014.1, RCV000367023.1, |
