rs796051992
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;C) | 3 | Carrier of a methylmalonic aciduria type cblA mutation |
(C;C) | 0 | common in clinvar |
Make rs796051992(A;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 4 |
Position | 145639526 |
Gene | MMAA |
is a | snp |
is | mentioned by |
dbSNP | rs796051992 |
dbSNP (classic) | rs796051992 |
ClinGen | rs796051992 |
ebi | rs796051992 |
HLI | rs796051992 |
Exac | rs796051992 |
Gnomad | rs796051992 |
Varsome | rs796051992 |
LitVar | rs796051992 |
Map | rs796051992 |
PheGenI | rs796051992 |
Biobank | rs796051992 |
1000 genomes | rs796051992 |
hgdp | rs796051992 |
ensembl | rs796051992 |
geneview | rs796051992 |
scholar | rs796051992 |
rs796051992 | |
pharmgkb | rs796051992 |
gwascentral | rs796051992 |
openSNP | rs796051992 |
23andMe | rs796051992 |
SNPshot | rs796051992 |
SNPdbe | rs796051992 |
MSV3d | rs796051992 |
GWAS Ctlg | rs796051992 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs796051992(A;A) |
Alt | rs796051992(A;A) |
Reference | Rs796051992(C;C) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | MMAA |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000004.11:g.146560678C>A |
CLNSRC | |
CLNACC | RCV000186011.2, |