rs119491110
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs119491110(C;G) |
Make rs119491110(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 73615425 |
Gene | SLC17A5 |
is a | snp |
is | mentioned by |
dbSNP | rs119491110 |
dbSNP (classic) | rs119491110 |
ClinGen | rs119491110 |
ebi | rs119491110 |
HLI | rs119491110 |
Exac | rs119491110 |
Gnomad | rs119491110 |
Varsome | rs119491110 |
LitVar | rs119491110 |
Map | rs119491110 |
PheGenI | rs119491110 |
Biobank | rs119491110 |
1000 genomes | rs119491110 |
hgdp | rs119491110 |
ensembl | rs119491110 |
geneview | rs119491110 |
scholar | rs119491110 |
rs119491110 | |
pharmgkb | rs119491110 |
gwascentral | rs119491110 |
openSNP | rs119491110 |
23andMe | rs119491110 |
SNPshot | rs119491110 |
SNPdbe | rs119491110 |
MSV3d | rs119491110 |
GWAS Ctlg | rs119491110 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs119491110(G;G) |
Alt | rs119491110(G;G) |
Reference | Rs119491110(C;C) |
Significance | Pathogenic |
Disease | Sialic acid storage disease |
Variation | info |
Gene | SLC17A5 |
CLNDBN | Sialic acid storage disease, severe infantile type |
Reversed | 1 |
HGVS | NC_000006.11:g.74325148G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000005971.3, |