rs606231155
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs606231155(C;C) |
Make rs606231155(C;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 19 |
Position | 38287937 |
Gene | SPINT2 |
is a | snp |
is | mentioned by |
dbSNP | rs606231155 |
dbSNP (classic) | rs606231155 |
ClinGen | rs606231155 |
ebi | rs606231155 |
HLI | rs606231155 |
Exac | rs606231155 |
Gnomad | rs606231155 |
Varsome | rs606231155 |
LitVar | rs606231155 |
Map | rs606231155 |
PheGenI | rs606231155 |
Biobank | rs606231155 |
1000 genomes | rs606231155 |
hgdp | rs606231155 |
ensembl | rs606231155 |
geneview | rs606231155 |
scholar | rs606231155 |
rs606231155 | |
pharmgkb | rs606231155 |
gwascentral | rs606231155 |
openSNP | rs606231155 |
23andMe | rs606231155 |
SNPshot | rs606231155 |
SNPdbe | rs606231155 |
MSV3d | rs606231155 |
GWAS Ctlg | rs606231155 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs606231155(C;C) |
Alt | rs606231155(C;C) |
Reference | Rs606231155(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.38778577T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005516.3, |