rs765547005
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs765547005(C;C) |
Make rs765547005(C;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 109557125 |
Gene | MMAB |
is a | snp |
is | mentioned by |
dbSNP | rs765547005 |
dbSNP (classic) | rs765547005 |
ClinGen | rs765547005 |
ebi | rs765547005 |
HLI | rs765547005 |
Exac | rs765547005 |
Gnomad | rs765547005 |
Varsome | rs765547005 |
LitVar | rs765547005 |
Map | rs765547005 |
PheGenI | rs765547005 |
Biobank | rs765547005 |
1000 genomes | rs765547005 |
hgdp | rs765547005 |
ensembl | rs765547005 |
geneview | rs765547005 |
scholar | rs765547005 |
rs765547005 | |
pharmgkb | rs765547005 |
gwascentral | rs765547005 |
openSNP | rs765547005 |
23andMe | rs765547005 |
SNPshot | rs765547005 |
SNPdbe | rs765547005 |
MSV3d | rs765547005 |
GWAS Ctlg | rs765547005 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs765547005(C;C) |
Alt | rs765547005(C;C) |
Reference | Rs765547005(T;T) |
Significance | Pathogenic |
Disease | Methylmalonic aciduria cblB type not specified |
Variation | info |
Gene | MMAB |
CLNDBN | Methylmalonic aciduria cblB type not specified |
Reversed | 0 |
HGVS | NC_000012.11:g.109994930T>C |
CLNSRC | |
CLNACC | RCV000203386.1, RCV000424166.1, |