rs77702891
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs77702891(A;A) |
| Make rs77702891(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 10 |
| Position | 43106446 |
| Gene | RET |
| is a | snp |
| is | mentioned by |
| dbSNP | rs77702891 |
| dbSNP (classic) | rs77702891 |
| ClinGen | rs77702891 |
| ebi | rs77702891 |
| HLI | rs77702891 |
| Exac | rs77702891 |
| Gnomad | rs77702891 |
| Varsome | rs77702891 |
| LitVar | rs77702891 |
| Map | rs77702891 |
| PheGenI | rs77702891 |
| Biobank | rs77702891 |
| 1000 genomes | rs77702891 |
| hgdp | rs77702891 |
| ensembl | rs77702891 |
| geneview | rs77702891 |
| scholar | rs77702891 |
| rs77702891 | |
| pharmgkb | rs77702891 |
| gwascentral | rs77702891 |
| openSNP | rs77702891 |
| 23andMe | rs77702891 |
| SNPshot | rs77702891 |
| SNPdbe | rs77702891 |
| MSV3d | rs77702891 |
| GWAS Ctlg | rs77702891 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs77702891(A;A) rs77702891(T;T) |
| Alt | rs77702891(A;A) rs77702891(T;T) |
| Reference | Rs77702891(G;G) |
| Significance | Other |
| Disease | Hirschsprung disease 1 |
| Variation | info |
| Gene | RET |
| CLNDBN | Hirschsprung disease 1 |
| Reversed | 0 |
| HGVS | NC_000010.10:g.43601894G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000014957.4, |
[PMID 9111993] A Cys634Gly substitution of the RET proto-oncogene in a family with recurrence of multiple endocrine neoplasia type 2A and cutaneous lichen amyloidosis.
