rs763935916
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;C) | 3 | Carrier of a methylmalonic aciduria type cblB mutation |
(C;C) | 0 | common in clinvar |
Make rs763935916(A;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 109568864 |
Gene | MMAB |
is a | snp |
is | mentioned by |
dbSNP | rs763935916 |
dbSNP (classic) | rs763935916 |
ClinGen | rs763935916 |
ebi | rs763935916 |
HLI | rs763935916 |
Exac | rs763935916 |
Gnomad | rs763935916 |
Varsome | rs763935916 |
LitVar | rs763935916 |
Map | rs763935916 |
PheGenI | rs763935916 |
Biobank | rs763935916 |
1000 genomes | rs763935916 |
hgdp | rs763935916 |
ensembl | rs763935916 |
geneview | rs763935916 |
scholar | rs763935916 |
rs763935916 | |
pharmgkb | rs763935916 |
gwascentral | rs763935916 |
openSNP | rs763935916 |
23andMe | rs763935916 |
SNPshot | rs763935916 |
SNPdbe | rs763935916 |
MSV3d | rs763935916 |
GWAS Ctlg | rs763935916 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs763935916(A;A) |
Alt | rs763935916(A;A) |
Reference | Rs763935916(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.110006669C>A |
CLNSRC | |
CLNACC | RCV000203326.1, |