rs746219370
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Carrier of a methylmalonic aciduria type cblB mutation |
Make rs746219370(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 109561052 |
Gene | MMAB |
is a | snp |
is | mentioned by |
dbSNP | rs746219370 |
dbSNP (classic) | rs746219370 |
ClinGen | rs746219370 |
ebi | rs746219370 |
HLI | rs746219370 |
Exac | rs746219370 |
Gnomad | rs746219370 |
Varsome | rs746219370 |
LitVar | rs746219370 |
Map | rs746219370 |
PheGenI | rs746219370 |
Biobank | rs746219370 |
1000 genomes | rs746219370 |
hgdp | rs746219370 |
ensembl | rs746219370 |
geneview | rs746219370 |
scholar | rs746219370 |
rs746219370 | |
pharmgkb | rs746219370 |
gwascentral | rs746219370 |
openSNP | rs746219370 |
23andMe | rs746219370 |
SNPshot | rs746219370 |
SNPdbe | rs746219370 |
MSV3d | rs746219370 |
GWAS Ctlg | rs746219370 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs746219370(T;T) |
Alt | rs746219370(T;T) |
Reference | Rs746219370(C;C) |
Significance | Pathogenic |
Disease | Methylmalonic aciduria cblB type |
Variation | info |
Gene | MMAB |
CLNDBN | Methylmalonic aciduria cblB type |
Reversed | 0 |
HGVS | NC_000012.11:g.109998857C>T |
CLNSRC | |
CLNACC | RCV000203356.1, |