rs796065046
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs796065046(C;T) |
Make rs796065046(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 14 |
Position | 74072539 |
Gene | ALDH6A1, BBOF1 |
is a | snp |
is | mentioned by |
dbSNP | rs796065046 |
dbSNP (classic) | rs796065046 |
ClinGen | rs796065046 |
ebi | rs796065046 |
HLI | rs796065046 |
Exac | rs796065046 |
Gnomad | rs796065046 |
Varsome | rs796065046 |
LitVar | rs796065046 |
Map | rs796065046 |
PheGenI | rs796065046 |
Biobank | rs796065046 |
1000 genomes | rs796065046 |
hgdp | rs796065046 |
ensembl | rs796065046 |
geneview | rs796065046 |
scholar | rs796065046 |
rs796065046 | |
pharmgkb | rs796065046 |
gwascentral | rs796065046 |
openSNP | rs796065046 |
23andMe | rs796065046 |
SNPshot | rs796065046 |
SNPdbe | rs796065046 |
MSV3d | rs796065046 |
GWAS Ctlg | rs796065046 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796065046(T;T) |
Alt | rs796065046(T;T) |
Reference | Rs796065046(C;C) |
Significance | Pathogenic |
Disease | Methylmalonate semialdehyde dehydrogenase deficiency |
Variation | info |
Gene | ALDH6A1 |
CLNDBN | Methylmalonate semialdehyde dehydrogenase deficiency |
Reversed | 1 |
HGVS | NC_000014.8:g.74539242G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000190333.3, |