rs386833470
From SNPedia
| Merged into | rs121913031 |
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| Make rs386833470(-;TCA) |
| Make rs386833470(TCA;TCA) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 107772089 |
| Gene | SLC26A3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs386833470 |
| dbSNP (classic) | rs386833470 |
| ClinGen | rs386833470 |
| ebi | rs386833470 |
| HLI | rs386833470 |
| Exac | rs386833470 |
| Gnomad | rs386833470 |
| Varsome | rs386833470 |
| LitVar | rs386833470 |
| Map | rs386833470 |
| PheGenI | rs386833470 |
| Biobank | rs386833470 |
| 1000 genomes | rs386833470 |
| hgdp | rs386833470 |
| ensembl | rs386833470 |
| geneview | rs386833470 |
| scholar | rs386833470 |
| rs386833470 | |
| pharmgkb | rs386833470 |
| gwascentral | rs386833470 |
| openSNP | rs386833470 |
| 23andMe | rs386833470 |
| SNPshot | rs386833470 |
| SNPdbe | rs386833470 |
| MSV3d | rs386833470 |
| GWAS Ctlg | rs386833470 |
| Status | Merged into rs121913031 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs386833470(TCA;TCA) |
| Alt | rs386833470(TCA;TCA) |
| Reference | Rs386833470(;) |
| Significance | Other |
| Disease | Congenital secretory diarrhea |
| Variation | info |
| Gene | SLC26A3 |
| CLNDBN | Congenital secretory diarrhea, chloride type |
| Reversed | 1 |
| HGVS | NC_000007.13:g.107412535_107412537dupTGA |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000049397.4, |
[PMID 9718329
] Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait.
[PMID 21332001] A Turkish case of congenital chloride diarrhea with SLC26A3 gene (c.2025_2026insATC) mutation: diagnostic pitfalls.
