rs869320692
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs869320692(-;-) |
Make rs869320692(-;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 5 |
Position | 477347 |
Gene | LOC100288152, SLC9A3 |
is a | snp |
is | mentioned by |
dbSNP | rs869320692 |
dbSNP (classic) | rs869320692 |
ClinGen | rs869320692 |
ebi | rs869320692 |
HLI | rs869320692 |
Exac | rs869320692 |
Gnomad | rs869320692 |
Varsome | rs869320692 |
LitVar | rs869320692 |
Map | rs869320692 |
PheGenI | rs869320692 |
Biobank | rs869320692 |
1000 genomes | rs869320692 |
hgdp | rs869320692 |
ensembl | rs869320692 |
geneview | rs869320692 |
scholar | rs869320692 |
rs869320692 | |
pharmgkb | rs869320692 |
gwascentral | rs869320692 |
openSNP | rs869320692 |
23andMe | rs869320692 |
SNPshot | rs869320692 |
SNPdbe | rs869320692 |
MSV3d | rs869320692 |
GWAS Ctlg | rs869320692 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869320692(-;-) |
Alt | rs869320692(-;-) |
Reference | Rs869320692(C;C) |
Significance | Pathogenic |
Disease | Diarrhea 8 |
Variation | info |
Gene | LOC100288152 SLC9A3 |
CLNDBN | Diarrhea 8, secretory sodium, congenital |
Reversed | 1 |
HGVS | NC_000005.9:g.477462delG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000210220.2, |