rs386833778
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs386833778(C;T) |
Make rs386833778(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 17068723 |
Gene | CUBN |
is a | snp |
is | mentioned by |
dbSNP | rs386833778 |
dbSNP (classic) | rs386833778 |
ClinGen | rs386833778 |
ebi | rs386833778 |
HLI | rs386833778 |
Exac | rs386833778 |
Gnomad | rs386833778 |
Varsome | rs386833778 |
LitVar | rs386833778 |
Map | rs386833778 |
PheGenI | rs386833778 |
Biobank | rs386833778 |
1000 genomes | rs386833778 |
hgdp | rs386833778 |
ensembl | rs386833778 |
geneview | rs386833778 |
scholar | rs386833778 |
rs386833778 | |
pharmgkb | rs386833778 |
gwascentral | rs386833778 |
openSNP | rs386833778 |
23andMe | rs386833778 |
SNPshot | rs386833778 |
SNPdbe | rs386833778 |
MSV3d | rs386833778 |
GWAS Ctlg | rs386833778 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs386833778(A;A) rs386833778(G;G) rs386833778(T;T) |
Alt | rs386833778(A;A) rs386833778(G;G) rs386833778(T;T) |
Reference | Rs386833778(C;C) |
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 | 1 |
HGVS | NC_000010.10:g.17110722G>T |
CLNSRC | ClinVar |
CLNACC | RCV000049743.1, |
[PMID 22929189] Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns.