rs28940883
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in complete genomics |
(T;T) | 0 |
Make rs28940883(A;G) |
Make rs28940883(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 23798160 |
Gene | GALE |
is a | snp |
is | mentioned by |
dbSNP | rs28940883 |
dbSNP (classic) | rs28940883 |
ClinGen | rs28940883 |
ebi | rs28940883 |
HLI | rs28940883 |
Exac | rs28940883 |
Gnomad | rs28940883 |
Varsome | rs28940883 |
LitVar | rs28940883 |
Map | rs28940883 |
PheGenI | rs28940883 |
Biobank | rs28940883 |
1000 genomes | rs28940883 |
hgdp | rs28940883 |
ensembl | rs28940883 |
geneview | rs28940883 |
scholar | rs28940883 |
rs28940883 | |
pharmgkb | rs28940883 |
gwascentral | rs28940883 |
openSNP | rs28940883 |
23andMe | rs28940883 |
SNPshot | rs28940883 |
SNPdbe | rs28940883 |
MSV3d | rs28940883 |
GWAS Ctlg | rs28940883 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28940883(G;G) |
Alt | rs28940883(G;G) |
Reference | Rs28940883(A;A) |
Significance | Pathogenic |
Disease | UDPglucose-4-epimerase deficiency |
Variation | info |
Gene | GALE |
CLNDBN | UDPglucose-4-epimerase deficiency |
Reversed | 1 |
HGVS | NC_000001.10:g.24124650T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000003863.2, |