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rs121434409

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121434409(C;C)
Make rs121434409(C;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position128541124
GeneGLE1, LOC101929270
is asnp
is mentioned by
dbSNPrs121434409
ebirs121434409
HLIrs121434409
Exacrs121434409
Varsomers121434409
Maprs121434409
PheGenIrs121434409
hapmaprs121434409
1000 genomesrs121434409
hgdprs121434409
ensemblrs121434409
gopubmedrs121434409
geneviewrs121434409
scholarrs121434409
googlers121434409
pharmgkbrs121434409
gwascentralrs121434409
openSNPrs121434409
23andMers121434409
23andMe allrs121434409
SNP Nexus

SNPshotrs121434409
SNPdbers121434409
MSV3drs121434409
GWAS Ctlgrs121434409
Max Magnitude0
OMIM603371
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121434409(C;C)
Alt rs121434409(C;C)
Reference rs121434409(T;T)
Significance Pathogenic
Disease Lethal arthrogryposis with anterior horn cell disease
Variation info
Gene GLE1 LOC101929270
CLNDBN Lethal arthrogryposis with anterior horn cell disease
Reversed 0
HGVS NC_000009.11:g.131303403T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000006836.3,