rs1057517016
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs1057517016(-;A) |
Make rs1057517016(A;A) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 7 |
Position | 107906317 |
Gene | DLD |
is a | snp |
is | mentioned by |
dbSNP | rs1057517016 |
dbSNP (classic) | rs1057517016 |
ClinGen | rs1057517016 |
ebi | rs1057517016 |
HLI | rs1057517016 |
Exac | rs1057517016 |
Gnomad | rs1057517016 |
Varsome | rs1057517016 |
LitVar | rs1057517016 |
Map | rs1057517016 |
PheGenI | rs1057517016 |
Biobank | rs1057517016 |
1000 genomes | rs1057517016 |
hgdp | rs1057517016 |
ensembl | rs1057517016 |
geneview | rs1057517016 |
scholar | rs1057517016 |
rs1057517016 | |
pharmgkb | rs1057517016 |
gwascentral | rs1057517016 |
openSNP | rs1057517016 |
23andMe | rs1057517016 |
SNPshot | rs1057517016 |
SNPdbe | rs1057517016 |
MSV3d | rs1057517016 |
GWAS Ctlg | rs1057517016 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057517016(A;A) |
Alt | rs1057517016(A;A) |
Reference | Rs1057517016(-;-) |
Significance | Probable-Pathogenic |
Disease | Maple syrup urine disease |
Variation | info |
Gene | DLD |
CLNDBN | Maple syrup urine disease, type 3 |
Reversed | 0 |
HGVS | NC_000007.13:g.107546762dupA |
CLNSRC | |
CLNACC | RCV000411898.1, |