rs371518124
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs371518124(A;A) |
Make rs371518124(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 80168906 |
Gene | BCKDHB |
is a | snp |
is | mentioned by |
dbSNP | rs371518124 |
dbSNP (classic) | rs371518124 |
ClinGen | rs371518124 |
ebi | rs371518124 |
HLI | rs371518124 |
Exac | rs371518124 |
Gnomad | rs371518124 |
Varsome | rs371518124 |
LitVar | rs371518124 |
Map | rs371518124 |
PheGenI | rs371518124 |
Biobank | rs371518124 |
1000 genomes | rs371518124 |
hgdp | rs371518124 |
ensembl | rs371518124 |
geneview | rs371518124 |
scholar | rs371518124 |
rs371518124 | |
pharmgkb | rs371518124 |
gwascentral | rs371518124 |
openSNP | rs371518124 |
23andMe | rs371518124 |
SNPshot | rs371518124 |
SNPdbe | rs371518124 |
MSV3d | rs371518124 |
GWAS Ctlg | rs371518124 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs371518124(A;A) rs371518124(C;C) |
Alt | rs371518124(A;A) rs371518124(C;C) |
Reference | Rs371518124(G;G) |
Significance | Other |
Disease | not provided Maple syrup urine disease not specified |
Variation | info |
Gene | BCKDHB |
CLNDBN | not provided Maple syrup urine disease not specified |
Reversed | 0 |
HGVS | NC_000006.11:g.80878623G>A; NC_000006.11:g.80878623G>C |
CLNSRC | HGMD UniProtKB (protein) |
CLNACC | RCV000082749.4, RCV000179047.1, RCV000082750.4, |