rs149766077
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs149766077(C;T) |
Make rs149766077(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 6 |
Position | 80168944 |
Gene | BCKDHB |
is a | snp |
is | mentioned by |
dbSNP | rs149766077 |
dbSNP (classic) | rs149766077 |
ClinGen | rs149766077 |
ebi | rs149766077 |
HLI | rs149766077 |
Exac | rs149766077 |
Gnomad | rs149766077 |
Varsome | rs149766077 |
LitVar | rs149766077 |
Map | rs149766077 |
PheGenI | rs149766077 |
Biobank | rs149766077 |
1000 genomes | rs149766077 |
hgdp | rs149766077 |
ensembl | rs149766077 |
geneview | rs149766077 |
scholar | rs149766077 |
rs149766077 | |
pharmgkb | rs149766077 |
gwascentral | rs149766077 |
openSNP | rs149766077 |
23andMe | rs149766077 |
SNPshot | rs149766077 |
SNPdbe | rs149766077 |
MSV3d | rs149766077 |
GWAS Ctlg | rs149766077 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs149766077(G;G) rs149766077(T;T) |
Alt | rs149766077(G;G) rs149766077(T;T) |
Reference | Rs149766077(C;C) |
Significance | Probable-Pathogenic |
Disease | not provided Maple syrup urine disease |
Variation | info |
Gene | BCKDHB |
CLNDBN | not provided Maple syrup urine disease |
Reversed | 0 |
HGVS | NC_000006.11:g.80878661C>T |
CLNSRC | HGMD |
CLNACC | RCV000082753.3, RCV000179039.2, |