rs864309730
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 rs864309730(A;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 4 |
Position | 145646076 |
Gene | MMAA |
is a | snp |
is | mentioned by |
dbSNP | rs864309730 |
dbSNP (classic) | rs864309730 |
ClinGen | rs864309730 |
ebi | rs864309730 |
HLI | rs864309730 |
Exac | rs864309730 |
Gnomad | rs864309730 |
Varsome | rs864309730 |
LitVar | rs864309730 |
Map | rs864309730 |
PheGenI | rs864309730 |
Biobank | rs864309730 |
1000 genomes | rs864309730 |
hgdp | rs864309730 |
ensembl | rs864309730 |
geneview | rs864309730 |
scholar | rs864309730 |
rs864309730 | |
pharmgkb | rs864309730 |
gwascentral | rs864309730 |
openSNP | rs864309730 |
23andMe | rs864309730 |
SNPshot | rs864309730 |
SNPdbe | rs864309730 |
MSV3d | rs864309730 |
GWAS Ctlg | rs864309730 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs864309730(A;A) |
Alt | rs864309730(A;A) |
Reference | Rs864309730(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.146567228G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000203378.1, |