rs1057516795
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CCTGGCGCGGG;CCTGGCGCGGG) | 0 | common in clinvar |
Make rs1057516795(-;-) |
Make rs1057516795(-;CCTGGCGCGGG) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 6 |
Position | 80106772 |
Gene | BCKDHB |
is a | snp |
is | mentioned by |
dbSNP | rs1057516795 |
dbSNP (classic) | rs1057516795 |
ClinGen | rs1057516795 |
ebi | rs1057516795 |
HLI | rs1057516795 |
Exac | rs1057516795 |
Gnomad | rs1057516795 |
Varsome | rs1057516795 |
LitVar | rs1057516795 |
Map | rs1057516795 |
PheGenI | rs1057516795 |
Biobank | rs1057516795 |
1000 genomes | rs1057516795 |
hgdp | rs1057516795 |
ensembl | rs1057516795 |
geneview | rs1057516795 |
scholar | rs1057516795 |
rs1057516795 | |
pharmgkb | rs1057516795 |
gwascentral | rs1057516795 |
openSNP | rs1057516795 |
23andMe | rs1057516795 |
SNPshot | rs1057516795 |
SNPdbe | rs1057516795 |
MSV3d | rs1057516795 |
GWAS Ctlg | rs1057516795 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057516795(-;-) |
Alt | rs1057516795(-;-) |
Reference | Rs1057516795(CCTGGCGCGGG;CCTGGCGCGGG) |
Significance | Probable-Pathogenic |
Disease | Maple syrup urine disease |
Variation | info |
Gene | BCKDHB |
CLNDBN | Maple syrup urine disease |
Reversed | 0 |
HGVS | NC_000006.11:g.80816489_80816499delCCTGGCGCGGG |
CLNSRC | |
CLNACC | RCV000410202.1, |