rs368166217
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs368166217(C;T) |
Make rs368166217(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 34648846 |
Gene | GALT |
is a | snp |
is | mentioned by |
dbSNP | rs368166217 |
dbSNP (classic) | rs368166217 |
ClinGen | rs368166217 |
ebi | rs368166217 |
HLI | rs368166217 |
Exac | rs368166217 |
Gnomad | rs368166217 |
Varsome | rs368166217 |
LitVar | rs368166217 |
Map | rs368166217 |
PheGenI | rs368166217 |
Biobank | rs368166217 |
1000 genomes | rs368166217 |
hgdp | rs368166217 |
ensembl | rs368166217 |
geneview | rs368166217 |
scholar | rs368166217 |
rs368166217 | |
pharmgkb | rs368166217 |
gwascentral | rs368166217 |
openSNP | rs368166217 |
23andMe | rs368166217 |
SNPshot | rs368166217 |
SNPdbe | rs368166217 |
MSV3d | rs368166217 |
GWAS Ctlg | rs368166217 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs368166217(T;T) |
Alt | rs368166217(T;T) |
Reference | Rs368166217(C;C) |
Significance | Pathogenic |
Disease | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase not provided |
Variation | info |
Gene | GALT |
CLNDBN | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase not provided |
Reversed | 0 |
HGVS | NC_000009.11:g.34648843C>T |
CLNSRC | HGMD UniProtKB (protein) |
CLNACC | RCV000078235.4, RCV000493672.1, |