rs869320654
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;T) | 3 | Carrier of a methylmalonic aciduria type cblB mutation |
Make rs869320654(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 12 |
Position | 109561061 |
Gene | MMAB |
is a | snp |
is | mentioned by |
dbSNP | rs869320654 |
dbSNP (classic) | rs869320654 |
ClinGen | rs869320654 |
ebi | rs869320654 |
HLI | rs869320654 |
Exac | rs869320654 |
Gnomad | rs869320654 |
Varsome | rs869320654 |
LitVar | rs869320654 |
Map | rs869320654 |
PheGenI | rs869320654 |
Biobank | rs869320654 |
1000 genomes | rs869320654 |
hgdp | rs869320654 |
ensembl | rs869320654 |
geneview | rs869320654 |
scholar | rs869320654 |
rs869320654 | |
pharmgkb | rs869320654 |
gwascentral | rs869320654 |
openSNP | rs869320654 |
23andMe | rs869320654 |
SNPshot | rs869320654 |
SNPdbe | rs869320654 |
MSV3d | rs869320654 |
GWAS Ctlg | rs869320654 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869320654(G;G) |
Alt | rs869320654(G;G) |
Reference | Rs869320654(T;T) |
Significance | Pathogenic |
Disease | Methylmalonic aciduria cblB type |
Variation | info |
Gene | MMAB |
CLNDBN | Methylmalonic aciduria cblB type |
Reversed | 1 |
HGVS | NC_000012.11:g.109998866A>C |
CLNSRC | |
CLNACC | RCV000210838.1, |