rs121908046
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs121908046(A;G) |
Make rs121908046(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 23798907 |
Gene | GALE |
is a | snp |
is | mentioned by |
dbSNP | rs121908046 |
dbSNP (classic) | rs121908046 |
ClinGen | rs121908046 |
ebi | rs121908046 |
HLI | rs121908046 |
Exac | rs121908046 |
Gnomad | rs121908046 |
Varsome | rs121908046 |
LitVar | rs121908046 |
Map | rs121908046 |
PheGenI | rs121908046 |
Biobank | rs121908046 |
1000 genomes | rs121908046 |
hgdp | rs121908046 |
ensembl | rs121908046 |
geneview | rs121908046 |
scholar | rs121908046 |
rs121908046 | |
pharmgkb | rs121908046 |
gwascentral | rs121908046 |
openSNP | rs121908046 |
23andMe | rs121908046 |
SNPshot | rs121908046 |
SNPdbe | rs121908046 |
MSV3d | rs121908046 |
GWAS Ctlg | rs121908046 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908046(G;G) |
Alt | rs121908046(G;G) |
Reference | Rs121908046(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.24125397T>C |
CLNSRC | HGMD OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000003861.6, |