rs377686388
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs377686388(C;C) |
Make rs377686388(C;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 4 |
Position | 158699015 |
Gene | ETFDH |
is a | snp |
is | mentioned by |
dbSNP | rs377686388 |
dbSNP (classic) | rs377686388 |
ClinGen | rs377686388 |
ebi | rs377686388 |
HLI | rs377686388 |
Exac | rs377686388 |
Gnomad | rs377686388 |
Varsome | rs377686388 |
LitVar | rs377686388 |
Map | rs377686388 |
PheGenI | rs377686388 |
Biobank | rs377686388 |
1000 genomes | rs377686388 |
hgdp | rs377686388 |
ensembl | rs377686388 |
geneview | rs377686388 |
scholar | rs377686388 |
rs377686388 | |
pharmgkb | rs377686388 |
gwascentral | rs377686388 |
openSNP | rs377686388 |
23andMe | rs377686388 |
SNPshot | rs377686388 |
SNPdbe | rs377686388 |
MSV3d | rs377686388 |
GWAS Ctlg | rs377686388 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs377686388(C;C) |
Alt | rs377686388(C;C) |
Reference | Rs377686388(T;T) |
Significance | Pathogenic |
Disease | Glutaric aciduria |
Variation | info |
Gene | ETFDH |
CLNDBN | Glutaric aciduria, type 2 |
Reversed | 0 |
HGVS | NC_000004.11:g.159620167T>C |
CLNSRC | |
CLNACC | RCV000180601.1, |