rs398123185
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs398123185(A;C) |
Make rs398123185(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 34648760 |
Gene | GALT |
is a | snp |
is | mentioned by |
dbSNP | rs398123185 |
dbSNP (classic) | rs398123185 |
ClinGen | rs398123185 |
ebi | rs398123185 |
HLI | rs398123185 |
Exac | rs398123185 |
Gnomad | rs398123185 |
Varsome | rs398123185 |
LitVar | rs398123185 |
Map | rs398123185 |
PheGenI | rs398123185 |
Biobank | rs398123185 |
1000 genomes | rs398123185 |
hgdp | rs398123185 |
ensembl | rs398123185 |
geneview | rs398123185 |
scholar | rs398123185 |
rs398123185 | |
pharmgkb | rs398123185 |
gwascentral | rs398123185 |
openSNP | rs398123185 |
23andMe | rs398123185 |
SNPshot | rs398123185 |
SNPdbe | rs398123185 |
MSV3d | rs398123185 |
GWAS Ctlg | rs398123185 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398123185(C;C) |
Alt | rs398123185(C;C) |
Reference | Rs398123185(A;A) |
Significance | Pathogenic |
Disease | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
Variation | info |
Gene | GALT |
CLNDBN | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
Reversed | 0 |
HGVS | NC_000009.11:g.34648757A>C |
CLNSRC | ClinVar |
CLNACC | RCV000078234.4, |