rs752866643
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs752866643(A;A) |
Make rs752866643(A;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 109561076 |
Gene | MMAB |
is a | snp |
is | mentioned by |
dbSNP | rs752866643 |
dbSNP (classic) | rs752866643 |
ClinGen | rs752866643 |
ebi | rs752866643 |
HLI | rs752866643 |
Exac | rs752866643 |
Gnomad | rs752866643 |
Varsome | rs752866643 |
LitVar | rs752866643 |
Map | rs752866643 |
PheGenI | rs752866643 |
Biobank | rs752866643 |
1000 genomes | rs752866643 |
hgdp | rs752866643 |
ensembl | rs752866643 |
geneview | rs752866643 |
scholar | rs752866643 |
rs752866643 | |
pharmgkb | rs752866643 |
gwascentral | rs752866643 |
openSNP | rs752866643 |
23andMe | rs752866643 |
SNPshot | rs752866643 |
SNPdbe | rs752866643 |
MSV3d | rs752866643 |
GWAS Ctlg | rs752866643 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs752866643(A;A) |
Alt | rs752866643(A;A) |
Reference | Rs752866643(T;T) |
Significance | Pathogenic |
Disease | Methylmalonic aciduria cblB type |
Variation | info |
Gene | MMAB |
CLNDBN | Methylmalonic aciduria cblB type |
Reversed | 0 |
HGVS | NC_000012.11:g.109998881T>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000202581.2, |