rs193922247
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs193922247(A;C) |
Make rs193922247(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 34647209 |
Gene | GALT |
is a | snp |
is | mentioned by |
dbSNP | rs193922247 |
dbSNP (classic) | rs193922247 |
ClinGen | rs193922247 |
ebi | rs193922247 |
HLI | rs193922247 |
Exac | rs193922247 |
Gnomad | rs193922247 |
Varsome | rs193922247 |
LitVar | rs193922247 |
Map | rs193922247 |
PheGenI | rs193922247 |
Biobank | rs193922247 |
1000 genomes | rs193922247 |
hgdp | rs193922247 |
ensembl | rs193922247 |
geneview | rs193922247 |
scholar | rs193922247 |
rs193922247 | |
pharmgkb | rs193922247 |
gwascentral | rs193922247 |
openSNP | rs193922247 |
23andMe | rs193922247 |
SNPshot | rs193922247 |
SNPdbe | rs193922247 |
MSV3d | rs193922247 |
GWAS Ctlg | rs193922247 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs193922247(C;C) |
Alt | rs193922247(C;C) |
Reference | Rs193922247(A;A) |
Significance | Probable-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.34647206A>C |
CLNSRC | ClinVar LabCorp |
CLNACC | RCV000029806.2, |