rs756414548
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs756414548(C;T) |
Make rs756414548(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 109561055 |
Gene | MMAB |
is a | snp |
is | mentioned by |
dbSNP | rs756414548 |
dbSNP (classic) | rs756414548 |
ClinGen | rs756414548 |
ebi | rs756414548 |
HLI | rs756414548 |
Exac | rs756414548 |
Gnomad | rs756414548 |
Varsome | rs756414548 |
LitVar | rs756414548 |
Map | rs756414548 |
PheGenI | rs756414548 |
Biobank | rs756414548 |
1000 genomes | rs756414548 |
hgdp | rs756414548 |
ensembl | rs756414548 |
geneview | rs756414548 |
scholar | rs756414548 |
rs756414548 | |
pharmgkb | rs756414548 |
gwascentral | rs756414548 |
openSNP | rs756414548 |
23andMe | rs756414548 |
SNPshot | rs756414548 |
SNPdbe | rs756414548 |
MSV3d | rs756414548 |
GWAS Ctlg | rs756414548 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs756414548(T;T) |
Alt | rs756414548(T;T) |
Reference | Rs756414548(C;C) |
Significance | Pathogenic |
Disease | not provided Methylmalonic aciduria cblB type |
Variation | info |
Gene | MMAB |
CLNDBN | not provided Methylmalonic aciduria cblB type |
Reversed | 0 |
HGVS | NC_000012.11:g.109998860C>T |
CLNSRC | |
CLNACC | RCV000186018.2, RCV000203392.1, |