rs864309727
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Carrier of a methylmalonic aciduria type cblA mutation |
Make rs864309727(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 4 |
Position | 145639497 |
Gene | MMAA |
is a | snp |
is | mentioned by |
dbSNP | rs864309727 |
dbSNP (classic) | rs864309727 |
ClinGen | rs864309727 |
ebi | rs864309727 |
HLI | rs864309727 |
Exac | rs864309727 |
Gnomad | rs864309727 |
Varsome | rs864309727 |
LitVar | rs864309727 |
Map | rs864309727 |
PheGenI | rs864309727 |
Biobank | rs864309727 |
1000 genomes | rs864309727 |
hgdp | rs864309727 |
ensembl | rs864309727 |
geneview | rs864309727 |
scholar | rs864309727 |
rs864309727 | |
pharmgkb | rs864309727 |
gwascentral | rs864309727 |
openSNP | rs864309727 |
23andMe | rs864309727 |
SNPshot | rs864309727 |
SNPdbe | rs864309727 |
MSV3d | rs864309727 |
GWAS Ctlg | rs864309727 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs864309727(T;T) |
Alt | rs864309727(T;T) |
Reference | Rs864309727(C;C) |
Significance | Pathogenic |
Disease | Methylmalonic aciduria cblA type |
Variation | info |
Gene | MMAA |
CLNDBN | Methylmalonic aciduria cblA type |
Reversed | 0 |
HGVS | NC_000004.11:g.146560649C>T |
CLNSRC | |
CLNACC | RCV000203366.1, |