rs397514650
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs397514650(A;G) |
Make rs397514650(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 107919079 |
Gene | DLD |
is a | snp |
is | mentioned by |
dbSNP | rs397514650 |
dbSNP (classic) | rs397514650 |
ClinGen | rs397514650 |
ebi | rs397514650 |
HLI | rs397514650 |
Exac | rs397514650 |
Gnomad | rs397514650 |
Varsome | rs397514650 |
LitVar | rs397514650 |
Map | rs397514650 |
PheGenI | rs397514650 |
Biobank | rs397514650 |
1000 genomes | rs397514650 |
hgdp | rs397514650 |
ensembl | rs397514650 |
geneview | rs397514650 |
scholar | rs397514650 |
rs397514650 | |
pharmgkb | rs397514650 |
gwascentral | rs397514650 |
openSNP | rs397514650 |
23andMe | rs397514650 |
SNPshot | rs397514650 |
SNPdbe | rs397514650 |
MSV3d | rs397514650 |
GWAS Ctlg | rs397514650 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397514650(G;G) |
Alt | rs397514650(G;G) |
Reference | Rs397514650(A;A) |
Significance | Pathogenic |
Disease | Maple syrup urine disease |
Variation | info |
Gene | DLD |
CLNDBN | Maple syrup urine disease, type 3 |
Reversed | 0 |
HGVS | NC_000007.13:g.107559524A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000033217.24, |