rs386833693
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs386833693(A;G) |
Make rs386833693(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 128522658 |
Gene | GLE1 |
is a | snp |
is | mentioned by |
dbSNP | rs386833693 |
dbSNP (classic) | rs386833693 |
ClinGen | rs386833693 |
ebi | rs386833693 |
HLI | rs386833693 |
Exac | rs386833693 |
Gnomad | rs386833693 |
Varsome | rs386833693 |
LitVar | rs386833693 |
Map | rs386833693 |
PheGenI | rs386833693 |
Biobank | rs386833693 |
1000 genomes | rs386833693 |
hgdp | rs386833693 |
ensembl | rs386833693 |
geneview | rs386833693 |
scholar | rs386833693 |
rs386833693 | |
pharmgkb | rs386833693 |
gwascentral | rs386833693 |
openSNP | rs386833693 |
23andMe | rs386833693 |
SNPshot | rs386833693 |
SNPdbe | rs386833693 |
MSV3d | rs386833693 |
GWAS Ctlg | rs386833693 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs386833693(G;G) rs386833693(T;T) |
Alt | rs386833693(G;G) rs386833693(T;T) |
Reference | Rs386833693(A;A) |
Significance | Pathogenic |
Disease | Lethal congenital contracture syndrome 1 Lethal arthrogryposis with anterior horn cell disease |
Variation | info |
Gene | GLE1 |
CLNDBN | Lethal congenital contracture syndrome 1 Lethal arthrogryposis with anterior horn cell disease |
Reversed | 0 |
HGVS | NC_000009.11:g.131284937A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006833.2, RCV000049654.1, |
[PMID 18204449] Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.