rs786204699
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs786204699(-;GGCGCGGGGCT) |
Make rs786204699(GGCGCGGGGCT;GGCGCGGGGCT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 6 |
Position | 80106796 |
Gene | BCKDHB |
is a | snp |
is | mentioned by |
dbSNP | rs786204699 |
dbSNP (classic) | rs786204699 |
ClinGen | rs786204699 |
ebi | rs786204699 |
HLI | rs786204699 |
Exac | rs786204699 |
Gnomad | rs786204699 |
Varsome | rs786204699 |
LitVar | rs786204699 |
Map | rs786204699 |
PheGenI | rs786204699 |
Biobank | rs786204699 |
1000 genomes | rs786204699 |
hgdp | rs786204699 |
ensembl | rs786204699 |
geneview | rs786204699 |
scholar | rs786204699 |
rs786204699 | |
pharmgkb | rs786204699 |
gwascentral | rs786204699 |
openSNP | rs786204699 |
23andMe | rs786204699 |
SNPshot | rs786204699 |
SNPdbe | rs786204699 |
MSV3d | rs786204699 |
GWAS Ctlg | rs786204699 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786204699(CTGGCGCGGGG;CTGGCGCGGGG) rs786204699(GGCGCGGGGCT;GGCGCGGGGCT) |
Alt | rs786204699(CTGGCGCGGGG;CTGGCGCGGGG) rs786204699(GGCGCGGGGCT;GGCGCGGGGCT) |
Reference | Rs786204699(-;-) |
Significance | Probable-Pathogenic |
Disease | Maple syrup urine disease |
Variation | info |
Gene | BCKDHB |
CLNDBN | Maple syrup urine disease |
Reversed | 0 |
HGVS | NC_000006.11:g.80816503_80816513dupGGCGCGGGGCT |
CLNSRC | Counsyl |
CLNACC | RCV000169513.1, |