rs137852644
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs137852644(C;C) |
Make rs137852644(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 30601179 |
Gene | GARS |
is a | snp |
is | mentioned by |
dbSNP | rs137852644 |
dbSNP (classic) | rs137852644 |
ClinGen | rs137852644 |
ebi | rs137852644 |
HLI | rs137852644 |
Exac | rs137852644 |
Gnomad | rs137852644 |
Varsome | rs137852644 |
LitVar | rs137852644 |
Map | rs137852644 |
PheGenI | rs137852644 |
Biobank | rs137852644 |
1000 genomes | rs137852644 |
hgdp | rs137852644 |
ensembl | rs137852644 |
geneview | rs137852644 |
scholar | rs137852644 |
rs137852644 | |
pharmgkb | rs137852644 |
gwascentral | rs137852644 |
openSNP | rs137852644 |
23andMe | rs137852644 |
SNPshot | rs137852644 |
SNPdbe | rs137852644 |
MSV3d | rs137852644 |
GWAS Ctlg | rs137852644 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137852644(C;C) |
Alt | rs137852644(C;C) |
Reference | Rs137852644(T;T) |
Significance | Pathogenic |
Disease | Distal hereditary motor neuronopathy type 5 |
Variation | info |
Gene | GARS |
CLNDBN | Distal hereditary motor neuronopathy type 5 |
Reversed | 0 |
HGVS | NC_000007.13:g.30640795T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000009783.4, |