rs75225191
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs75225191(C;T) |
| Make rs75225191(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 10 |
| Position | 43114541 |
| Gene | RET |
| is a | snp |
| is | mentioned by |
| dbSNP | rs75225191 |
| dbSNP (classic) | rs75225191 |
| ClinGen | rs75225191 |
| ebi | rs75225191 |
| HLI | rs75225191 |
| Exac | rs75225191 |
| Gnomad | rs75225191 |
| Varsome | rs75225191 |
| LitVar | rs75225191 |
| Map | rs75225191 |
| PheGenI | rs75225191 |
| Biobank | rs75225191 |
| 1000 genomes | rs75225191 |
| hgdp | rs75225191 |
| ensembl | rs75225191 |
| geneview | rs75225191 |
| scholar | rs75225191 |
| rs75225191 | |
| pharmgkb | rs75225191 |
| gwascentral | rs75225191 |
| openSNP | rs75225191 |
| 23andMe | rs75225191 |
| SNPshot | rs75225191 |
| SNPdbe | rs75225191 |
| MSV3d | rs75225191 |
| GWAS Ctlg | rs75225191 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs75225191(T;T) |
| Alt | rs75225191(T;T) |
| Reference | Rs75225191(C;C) |
| Significance | Other |
| Disease | Hirschsprung disease 1 Multiple endocrine neoplasia Hereditary cancer-predisposing syndrome |
| Variation | info |
| Gene | RET |
| CLNDBN | Hirschsprung disease 1 Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome |
| Reversed | 0 |
| HGVS | NC_000010.10:g.43609989C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000014966.2, RCV000204407.1, RCV000220871.1, |
[PMID 8084609] DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene.
