rs140356252
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;T) | 3 | Carrier of a methylmalonic aciduria type cblA mutation |
(T;T) | 0 | common in clinvar |
Make rs140356252(C;C) |
Make rs140356252(C;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 4 |
Position | 145646073 |
Gene | MMAA |
is a | snp |
is | mentioned by |
dbSNP | rs140356252 |
dbSNP (classic) | rs140356252 |
ClinGen | rs140356252 |
ebi | rs140356252 |
HLI | rs140356252 |
Exac | rs140356252 |
Gnomad | rs140356252 |
Varsome | rs140356252 |
LitVar | rs140356252 |
Map | rs140356252 |
PheGenI | rs140356252 |
Biobank | rs140356252 |
1000 genomes | rs140356252 |
hgdp | rs140356252 |
ensembl | rs140356252 |
geneview | rs140356252 |
scholar | rs140356252 |
rs140356252 | |
pharmgkb | rs140356252 |
gwascentral | rs140356252 |
openSNP | rs140356252 |
23andMe | rs140356252 |
SNPshot | rs140356252 |
SNPdbe | rs140356252 |
MSV3d | rs140356252 |
GWAS Ctlg | rs140356252 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs140356252(A;A) rs140356252(C;C) |
Alt | rs140356252(A;A) rs140356252(C;C) |
Reference | Rs140356252(T;T) |
Significance | Pathogenic |
Disease | Methylmalonic aciduria cblA type |
Variation | info |
Gene | MMAA |
CLNDBN | Methylmalonic aciduria cblA type |
Reversed | 0 |
HGVS | NC_000004.11:g.146567225T>A |
CLNSRC | |
CLNACC | RCV000203334.1, |