rs79717168
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs79717168(G;G) |
Make rs79717168(G;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 3 |
Position | 164983015 |
Gene | SI |
is a | snp |
is | mentioned by |
dbSNP | rs79717168 |
dbSNP (classic) | rs79717168 |
ClinGen | rs79717168 |
ebi | rs79717168 |
HLI | rs79717168 |
Exac | rs79717168 |
Gnomad | rs79717168 |
Varsome | rs79717168 |
LitVar | rs79717168 |
Map | rs79717168 |
PheGenI | rs79717168 |
Biobank | rs79717168 |
1000 genomes | rs79717168 |
hgdp | rs79717168 |
ensembl | rs79717168 |
geneview | rs79717168 |
scholar | rs79717168 |
rs79717168 | |
pharmgkb | rs79717168 |
gwascentral | rs79717168 |
openSNP | rs79717168 |
23andMe | rs79717168 |
SNPshot | rs79717168 |
SNPdbe | rs79717168 |
MSV3d | rs79717168 |
GWAS Ctlg | rs79717168 |
GMAF | 0.0009183 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs79717168(G;G) |
Alt | rs79717168(G;G) |
Reference | Rs79717168(T;T) |
Significance | Other |
Disease | Sucrase-isomaltase deficiency |
Variation | info |
Gene | SI |
CLNDBN | Sucrase-isomaltase deficiency |
Reversed | 1 |
HGVS | NC_000003.11:g.164700803A>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000001482.5, |