rs606231375
From SNPedia
Merged into | rs111033676 |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs606231375(-;A) |
Make rs606231375(A;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 9 |
Position | 34647662 |
Gene | GALT |
is a | snp |
is | mentioned by |
dbSNP | rs606231375 |
dbSNP (classic) | rs606231375 |
ClinGen | rs606231375 |
ebi | rs606231375 |
HLI | rs606231375 |
Exac | rs606231375 |
Gnomad | rs606231375 |
Varsome | rs606231375 |
LitVar | rs606231375 |
Map | rs606231375 |
PheGenI | rs606231375 |
Biobank | rs606231375 |
1000 genomes | rs606231375 |
hgdp | rs606231375 |
ensembl | rs606231375 |
geneview | rs606231375 |
scholar | rs606231375 |
rs606231375 | |
pharmgkb | rs606231375 |
gwascentral | rs606231375 |
openSNP | rs606231375 |
23andMe | rs606231375 |
SNPshot | rs606231375 |
SNPdbe | rs606231375 |
MSV3d | rs606231375 |
GWAS Ctlg | rs606231375 |
Status | Merged into rs111033676 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs606231375(A;A) |
Alt | rs606231375(A;A) |
Reference | Rs606231375(;) |
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.34647659dupA |
CLNSRC | |
CLNACC | RCV000022087.1, |