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.