rs121913029
From SNPedia
Merged into | rs386833491 |
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TGG;TGG) | 0 | common in clinvar |
Make rs121913029(-;-) |
Make rs121913029(-;GTG) |
Make rs121913029(GTG;GTG) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 107786847 |
Gene | SLC26A3 |
is a | snp |
is | mentioned by |
dbSNP | rs121913029 |
dbSNP (classic) | rs121913029 |
ClinGen | rs121913029 |
ebi | rs121913029 |
HLI | rs121913029 |
Exac | rs121913029 |
Gnomad | rs121913029 |
Varsome | rs121913029 |
LitVar | rs121913029 |
Map | rs121913029 |
PheGenI | rs121913029 |
Biobank | rs121913029 |
1000 genomes | rs121913029 |
hgdp | rs121913029 |
ensembl | rs121913029 |
geneview | rs121913029 |
scholar | rs121913029 |
rs121913029 | |
pharmgkb | rs121913029 |
gwascentral | rs121913029 |
openSNP | rs121913029 |
23andMe | rs121913029 |
SNPshot | rs121913029 |
SNPdbe | rs121913029 |
MSV3d | rs121913029 |
GWAS Ctlg | rs121913029 |
Status | Merged into rs386833491 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs121913029(TGG;TGG) |
Significance | Pathogenic |
Disease | Congenital secretory diarrhea |
Variation | info |
Gene | SLC26A3 |
CLNDBN | Congenital secretory diarrhea, chloride type |
Reversed | 1 |
HGVS | NC_000007.13:g.107427292_107427294delCAC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000018239.27, |