rs794727702
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(I;I) | 0 | common genotype |
(T;T) | 0 | common in clinvar |
Make rs794727702(-;-) |
Make rs794727702(-;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 23798196 |
Gene | GALE |
is a | snp |
is | mentioned by |
dbSNP | rs794727702 |
dbSNP (classic) | rs794727702 |
ClinGen | rs794727702 |
ebi | rs794727702 |
HLI | rs794727702 |
Exac | rs794727702 |
Gnomad | rs794727702 |
Varsome | rs794727702 |
LitVar | rs794727702 |
Map | rs794727702 |
PheGenI | rs794727702 |
Biobank | rs794727702 |
1000 genomes | rs794727702 |
hgdp | rs794727702 |
ensembl | rs794727702 |
geneview | rs794727702 |
scholar | rs794727702 |
rs794727702 | |
pharmgkb | rs794727702 |
gwascentral | rs794727702 |
openSNP | rs794727702 |
23andMe | rs794727702 |
SNPshot | rs794727702 |
SNPdbe | rs794727702 |
MSV3d | rs794727702 |
GWAS Ctlg | rs794727702 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794727702(-;-) |
Alt | rs794727702(-;-) |
Reference | Rs794727702(T;T) |
Significance | Pathogenic |
Disease | UDPglucose-4-epimerase deficiency |
Variation | info |
Gene | GALE |
CLNDBN | UDPglucose-4-epimerase deficiency |
Reversed | 1 |
HGVS | NC_000001.10:g.24124686delA |
CLNSRC | |
CLNACC | RCV000178764.1, |