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rs386833693

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386833693(A;G)
Make rs386833693(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position128522658
GeneGLE1
is asnp
is mentioned by
dbSNPrs386833693
ebirs386833693
HLIrs386833693
Exacrs386833693
Varsomers386833693
Maprs386833693
PheGenIrs386833693
hapmaprs386833693
1000 genomesrs386833693
hgdprs386833693
ensemblrs386833693
gopubmedrs386833693
geneviewrs386833693
scholarrs386833693
googlers386833693
pharmgkbrs386833693
gwascentralrs386833693
openSNPrs386833693
23andMers386833693
23andMe allrs386833693
SNP Nexus

SNPshotrs386833693
SNPdbers386833693
MSV3drs386833693
GWAS Ctlgrs386833693
Max Magnitude0
ClinVar
Risk rs386833693(G;G)
Alt rs386833693(G;G)
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 18204449OA-icon.png] Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.