rs765799472
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 rs765799472(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 4 |
Position | 145639203 |
Gene | MMAA |
is a | snp |
is | mentioned by |
dbSNP | rs765799472 |
dbSNP (classic) | rs765799472 |
ClinGen | rs765799472 |
ebi | rs765799472 |
HLI | rs765799472 |
Exac | rs765799472 |
Gnomad | rs765799472 |
Varsome | rs765799472 |
LitVar | rs765799472 |
Map | rs765799472 |
PheGenI | rs765799472 |
Biobank | rs765799472 |
1000 genomes | rs765799472 |
hgdp | rs765799472 |
ensembl | rs765799472 |
geneview | rs765799472 |
scholar | rs765799472 |
rs765799472 | |
pharmgkb | rs765799472 |
gwascentral | rs765799472 |
openSNP | rs765799472 |
23andMe | rs765799472 |
SNPshot | rs765799472 |
SNPdbe | rs765799472 |
MSV3d | rs765799472 |
GWAS Ctlg | rs765799472 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs765799472(T;T) |
Alt | rs765799472(T;T) |
Reference | Rs765799472(C;C) |
Significance | Pathogenic |
Disease | Methylmalonic aciduria cblA type not provided |
Variation | info |
Gene | MMAA |
CLNDBN | Methylmalonic aciduria cblA type not provided |
Reversed | 0 |
HGVS | NC_000004.11:g.146560355C>T |
CLNSRC | |
CLNACC | RCV000203329.1, RCV000488986.1, |