rs869320655
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 3 | Carrier of a methylmalonic aciduria type cblB mutation |
(T;T) | 0 | common in clinvar |
Make rs869320655(C;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 12 |
Position | 109573479 |
Gene | MMAB, MVK |
is a | snp |
is | mentioned by |
dbSNP | rs869320655 |
dbSNP (classic) | rs869320655 |
ClinGen | rs869320655 |
ebi | rs869320655 |
HLI | rs869320655 |
Exac | rs869320655 |
Gnomad | rs869320655 |
Varsome | rs869320655 |
LitVar | rs869320655 |
Map | rs869320655 |
PheGenI | rs869320655 |
Biobank | rs869320655 |
1000 genomes | rs869320655 |
hgdp | rs869320655 |
ensembl | rs869320655 |
geneview | rs869320655 |
scholar | rs869320655 |
rs869320655 | |
pharmgkb | rs869320655 |
gwascentral | rs869320655 |
openSNP | rs869320655 |
23andMe | rs869320655 |
SNPshot | rs869320655 |
SNPdbe | rs869320655 |
MSV3d | rs869320655 |
GWAS Ctlg | rs869320655 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs869320655(C;C) |
Alt | rs869320655(C;C) |
Reference | Rs869320655(T;T) |
Significance | Pathogenic |
Disease | Methylmalonic aciduria cblB type |
Variation | info |
Gene | MVK MMAB |
CLNDBN | Methylmalonic aciduria cblB type |
Reversed | 1 |
HGVS | NC_000012.11:g.110011284A>G |
CLNSRC | |
CLNACC | RCV000210846.1, |