rs869320656
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 3 | Carrier of a methylmalonic aciduria type cblA mutation |
(G;G) | 0 | common in clinvar |
Make rs869320656(A;A) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 4 |
Position | 145642486 |
Gene | MMAA |
is a | snp |
is | mentioned by |
dbSNP | rs869320656 |
dbSNP (classic) | rs869320656 |
ClinGen | rs869320656 |
ebi | rs869320656 |
HLI | rs869320656 |
Exac | rs869320656 |
Gnomad | rs869320656 |
Varsome | rs869320656 |
LitVar | rs869320656 |
Map | rs869320656 |
PheGenI | rs869320656 |
Biobank | rs869320656 |
1000 genomes | rs869320656 |
hgdp | rs869320656 |
ensembl | rs869320656 |
geneview | rs869320656 |
scholar | rs869320656 |
rs869320656 | |
pharmgkb | rs869320656 |
gwascentral | rs869320656 |
openSNP | rs869320656 |
23andMe | rs869320656 |
SNPshot | rs869320656 |
SNPdbe | rs869320656 |
MSV3d | rs869320656 |
GWAS Ctlg | rs869320656 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs869320656(A;A) |
Alt | rs869320656(A;A) |
Reference | Rs869320656(G;G) |
Significance | Pathogenic |
Disease | Methylmalonic aciduria cblA type |
Variation | info |
Gene | MMAA |
CLNDBN | Methylmalonic aciduria cblA type |
Reversed | 0 |
HGVS | NC_000004.11:g.146563638G>A |
CLNSRC | |
CLNACC | RCV000210831.1, |