rs377025174
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs377025174(C;T) |
Make rs377025174(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 218661192 |
Gene | BCS1L, ZNF142 |
is a | snp |
is | mentioned by |
dbSNP | rs377025174 |
dbSNP (classic) | rs377025174 |
ClinGen | rs377025174 |
ebi | rs377025174 |
HLI | rs377025174 |
Exac | rs377025174 |
Gnomad | rs377025174 |
Varsome | rs377025174 |
LitVar | rs377025174 |
Map | rs377025174 |
PheGenI | rs377025174 |
Biobank | rs377025174 |
1000 genomes | rs377025174 |
hgdp | rs377025174 |
ensembl | rs377025174 |
geneview | rs377025174 |
scholar | rs377025174 |
rs377025174 | |
pharmgkb | rs377025174 |
gwascentral | rs377025174 |
openSNP | rs377025174 |
23andMe | rs377025174 |
SNPshot | rs377025174 |
SNPdbe | rs377025174 |
MSV3d | rs377025174 |
GWAS Ctlg | rs377025174 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs377025174(T;T) |
Alt | rs377025174(T;T) |
Reference | Rs377025174(C;C) |
Significance | Probable-Pathogenic |
Disease | not provided Mitochondrial complex III deficiency |
Variation | info |
Gene | ZNF142 BCS1L |
CLNDBN | not provided Mitochondrial complex III deficiency |
Reversed | 0 |
HGVS | NC_000002.11:g.219525915C>T |
CLNSRC | |
CLNACC | RCV000197059.2, RCV000415034.1, |