rs78347871
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs78347871(C;C) |
| Make rs78347871(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 10 |
| Position | 43121950 |
| Gene | RET |
| is a | snp |
| is | mentioned by |
| dbSNP | rs78347871 |
| dbSNP (classic) | rs78347871 |
| ClinGen | rs78347871 |
| ebi | rs78347871 |
| HLI | rs78347871 |
| Exac | rs78347871 |
| Gnomad | rs78347871 |
| Varsome | rs78347871 |
| LitVar | rs78347871 |
| Map | rs78347871 |
| PheGenI | rs78347871 |
| Biobank | rs78347871 |
| 1000 genomes | rs78347871 |
| hgdp | rs78347871 |
| ensembl | rs78347871 |
| geneview | rs78347871 |
| scholar | rs78347871 |
| rs78347871 | |
| pharmgkb | rs78347871 |
| gwascentral | rs78347871 |
| openSNP | rs78347871 |
| 23andMe | rs78347871 |
| SNPshot | rs78347871 |
| SNPdbe | rs78347871 |
| MSV3d | rs78347871 |
| GWAS Ctlg | rs78347871 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs78347871(A;A) rs78347871(C;C) rs78347871(T;T) |
| Alt | rs78347871(A;A) rs78347871(C;C) rs78347871(T;T) |
| Reference | Rs78347871(G;G) |
| Significance | Pathogenic |
| Disease | MEN2 phenotype: Unknown Familial medullary thyroid carcinoma MEN2 phenotype: Unclassified |
| Variation | info |
| Gene | RET |
| CLNDBN | MEN2 phenotype: Unknown Familial medullary thyroid carcinoma MEN2 phenotype: Unclassified |
| Reversed | 0 |
| HGVS | NC_000010.10:g.43617398G>A; NC_000010.10:g.43617398G>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000021882.1, RCV000014981.21, RCV000021883.1, |
[PMID 15240641] A novel point mutation of the RET protooncogene involving the second intracellular tyrosine kinase domain in a family with medullary thyroid carcinoma. [PMID 11955539] Association between c135G/A genotype and RET proto-oncogene germline mutations and phenotype of Hirschsprung's disease.
