rs142433332
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs142433332(C;C) |
Make rs142433332(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 173831632 |
Gene | DARS2 |
is a | snp |
is | mentioned by |
dbSNP | rs142433332 |
dbSNP (classic) | rs142433332 |
ClinGen | rs142433332 |
ebi | rs142433332 |
HLI | rs142433332 |
Exac | rs142433332 |
Gnomad | rs142433332 |
Varsome | rs142433332 |
LitVar | rs142433332 |
Map | rs142433332 |
PheGenI | rs142433332 |
Biobank | rs142433332 |
1000 genomes | rs142433332 |
hgdp | rs142433332 |
ensembl | rs142433332 |
geneview | rs142433332 |
scholar | rs142433332 |
rs142433332 | |
pharmgkb | rs142433332 |
gwascentral | rs142433332 |
openSNP | rs142433332 |
23andMe | rs142433332 |
SNPshot | rs142433332 |
SNPdbe | rs142433332 |
MSV3d | rs142433332 |
GWAS Ctlg | rs142433332 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs142433332(C;C) rs142433332(G;G) |
Alt | rs142433332(C;C) rs142433332(G;G) |
Reference | Rs142433332(T;T) |
Significance | Pathogenic |
Disease | Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation not provided Dysmetria Gait ataxia Gait imbalance |
Variation | info |
Gene | DARS2 |
CLNDBN | Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation not provided Dysmetria Gait ataxia Gait imbalance |
Reversed | 0 |
HGVS | NC_000001.10:g.173800770T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000001117.6, RCV000194299.1, RCV000255444.1, RCV000415333.1, |