rs182512508
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs182512508(C;C) |
Make rs182512508(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 17085756 |
Gene | CUBN |
is a | snp |
is | mentioned by |
dbSNP | rs182512508 |
dbSNP (classic) | rs182512508 |
ClinGen | rs182512508 |
ebi | rs182512508 |
HLI | rs182512508 |
Exac | rs182512508 |
Gnomad | rs182512508 |
Varsome | rs182512508 |
LitVar | rs182512508 |
Map | rs182512508 |
PheGenI | rs182512508 |
Biobank | rs182512508 |
1000 genomes | rs182512508 |
hgdp | rs182512508 |
ensembl | rs182512508 |
geneview | rs182512508 |
scholar | rs182512508 |
rs182512508 | |
pharmgkb | rs182512508 |
gwascentral | rs182512508 |
openSNP | rs182512508 |
23andMe | rs182512508 |
SNPshot | rs182512508 |
SNPdbe | rs182512508 |
MSV3d | rs182512508 |
GWAS Ctlg | rs182512508 |
GMAF | 0.002755 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs182512508(A;A) rs182512508(C;C) |
Alt | rs182512508(A;A) rs182512508(C;C) |
Reference | Rs182512508(G;G) |
Significance | Probable-Pathogenic |
Disease | Megaloblastic anemia due to inborn errors of metabolism |
Variation | info |
Gene | CUBN |
CLNDBN | Megaloblastic anemia due to inborn errors of metabolism |
Reversed | 0 |
HGVS | NC_000010.10:g.17127755G>A; NC_000010.10:g.17127755G>C |
CLNSRC | ClinVar |
CLNACC | RCV000049736.1, RCV000490503.1, |
[PMID 15024727] Genetically heterogeneous selective intestinal malabsorption of vitamin B12: founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East.