rs112576957
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs112576957(C;C) |
Make rs112576957(C;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 19 |
Position | 38290282 |
Gene | SPINT2 |
is a | snp |
is | mentioned by |
dbSNP | rs112576957 |
dbSNP (classic) | rs112576957 |
ClinGen | rs112576957 |
ebi | rs112576957 |
HLI | rs112576957 |
Exac | rs112576957 |
Gnomad | rs112576957 |
Varsome | rs112576957 |
LitVar | rs112576957 |
Map | rs112576957 |
PheGenI | rs112576957 |
Biobank | rs112576957 |
1000 genomes | rs112576957 |
hgdp | rs112576957 |
ensembl | rs112576957 |
geneview | rs112576957 |
scholar | rs112576957 |
rs112576957 | |
pharmgkb | rs112576957 |
gwascentral | rs112576957 |
openSNP | rs112576957 |
23andMe | rs112576957 |
SNPshot | rs112576957 |
SNPdbe | rs112576957 |
MSV3d | rs112576957 |
GWAS Ctlg | rs112576957 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs112576957(A;A) rs112576957(C;C) |
Alt | rs112576957(A;A) rs112576957(C;C) |
Reference | Rs112576957(T;T) |
Significance | Pathogenic |
Disease | Diarrhea 3 |
Variation | info |
Gene | SPINT2 |
CLNDBN | Diarrhea 3, secretory sodium, congenital, syndromic |
Reversed | 0 |
HGVS | NC_000019.9:g.38780922T>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005517.3, |