rs398124575
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs398124575(C;T) |
Make rs398124575(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 6 |
Position | 80167699 |
Gene | BCKDHB |
is a | snp |
is | mentioned by |
dbSNP | rs398124575 |
dbSNP (classic) | rs398124575 |
ClinGen | rs398124575 |
ebi | rs398124575 |
HLI | rs398124575 |
Exac | rs398124575 |
Gnomad | rs398124575 |
Varsome | rs398124575 |
LitVar | rs398124575 |
Map | rs398124575 |
PheGenI | rs398124575 |
Biobank | rs398124575 |
1000 genomes | rs398124575 |
hgdp | rs398124575 |
ensembl | rs398124575 |
geneview | rs398124575 |
scholar | rs398124575 |
rs398124575 | |
pharmgkb | rs398124575 |
gwascentral | rs398124575 |
openSNP | rs398124575 |
23andMe | rs398124575 |
SNPshot | rs398124575 |
SNPdbe | rs398124575 |
MSV3d | rs398124575 |
GWAS Ctlg | rs398124575 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398124575(A;A) rs398124575(T;T) |
Alt | rs398124575(A;A) rs398124575(T;T) |
Reference | Rs398124575(C;C) |
Significance | Probable-Pathogenic |
Disease | Maple syrup urine disease not specified |
Variation | info |
Gene | BCKDHB |
CLNDBN | Maple syrup urine disease not specified |
Reversed | 0 |
HGVS | NC_000006.11:g.80877416C>A; NC_000006.11:g.80877416C>T |
CLNSRC | |
CLNACC | RCV000449606.1, RCV000082740.4, |