rs147014855
From SNPedia
Orientation | plus |
Stabilized | plus |
Make rs147014855(C;T) |
Make rs147014855(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 8 |
Position | 103403291 |
Gene | SLC25A32 |
is a | snp |
is | mentioned by |
dbSNP | rs147014855 |
dbSNP (classic) | rs147014855 |
ClinGen | rs147014855 |
ebi | rs147014855 |
HLI | rs147014855 |
Exac | rs147014855 |
Gnomad | rs147014855 |
Varsome | rs147014855 |
LitVar | rs147014855 |
Map | rs147014855 |
PheGenI | rs147014855 |
Biobank | rs147014855 |
1000 genomes | rs147014855 |
hgdp | rs147014855 |
ensembl | rs147014855 |
geneview | rs147014855 |
scholar | rs147014855 |
rs147014855 | |
pharmgkb | rs147014855 |
gwascentral | rs147014855 |
openSNP | rs147014855 |
23andMe | rs147014855 |
SNPshot | rs147014855 |
SNPdbe | rs147014855 |
MSV3d | rs147014855 |
GWAS Ctlg | rs147014855 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs147014855(T;T) |
Alt | rs147014855(T;T) |
Reference | Rs147014855(C;C) |
Significance | Pathogenic |
Disease | Exercise intolerance |
Variation | info |
Gene | SLC25A32 |
CLNDBN | Exercise intolerance, riboflavin-responsive |
Reversed | 0 |
HGVS | NC_000008.10:g.104415519C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000208744.3, |