rs397514649
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs397514649(A;T) |
Make rs397514649(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 107919071 |
Gene | DLD |
is a | snp |
is | mentioned by |
dbSNP | rs397514649 |
dbSNP (classic) | rs397514649 |
ClinGen | rs397514649 |
ebi | rs397514649 |
HLI | rs397514649 |
Exac | rs397514649 |
Gnomad | rs397514649 |
Varsome | rs397514649 |
LitVar | rs397514649 |
Map | rs397514649 |
PheGenI | rs397514649 |
Biobank | rs397514649 |
1000 genomes | rs397514649 |
hgdp | rs397514649 |
ensembl | rs397514649 |
geneview | rs397514649 |
scholar | rs397514649 |
rs397514649 | |
pharmgkb | rs397514649 |
gwascentral | rs397514649 |
openSNP | rs397514649 |
23andMe | rs397514649 |
SNPshot | rs397514649 |
SNPdbe | rs397514649 |
MSV3d | rs397514649 |
GWAS Ctlg | rs397514649 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397514649(T;T) |
Alt | rs397514649(T;T) |
Reference | Rs397514649(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.107559516A>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000033216.26, |