rs200596762
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 8.8 | Methylmalonic aciduria (predicted) |
(A;G) | 3 | Carrier for a methylmalonic aciduria mutation |
(G;G) | 0 | common in clinvar |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 6 |
Position | 49457762 |
Gene | MUT |
is a | snp |
is | mentioned by |
dbSNP | rs200596762 |
dbSNP (classic) | rs200596762 |
ClinGen | rs200596762 |
ebi | rs200596762 |
HLI | rs200596762 |
Exac | rs200596762 |
Gnomad | rs200596762 |
Varsome | rs200596762 |
LitVar | rs200596762 |
Map | rs200596762 |
PheGenI | rs200596762 |
Biobank | rs200596762 |
1000 genomes | rs200596762 |
hgdp | rs200596762 |
ensembl | rs200596762 |
geneview | rs200596762 |
scholar | rs200596762 |
rs200596762 | |
pharmgkb | rs200596762 |
gwascentral | rs200596762 |
openSNP | rs200596762 |
23andMe | rs200596762 |
SNPshot | rs200596762 |
SNPdbe | rs200596762 |
MSV3d | rs200596762 |
GWAS Ctlg | rs200596762 |
Max Magnitude | 8.8 |
ClinVar | |
---|---|
Risk | Rs200596762(A;A) |
Alt | Rs200596762(A;A) |
Reference | Rs200596762(G;G) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | MUT |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000006.11:g.49425475G>A |
CLNSRC | |
CLNACC | RCV000186056.2, |