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rs121434408

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434408(A;A)
Make rs121434408(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position128538058
GeneGLE1, LOC101929270
is asnp
is mentioned by
dbSNPrs121434408
ebirs121434408
HLIrs121434408
Exacrs121434408
Varsomers121434408
Maprs121434408
PheGenIrs121434408
hapmaprs121434408
1000 genomesrs121434408
hgdprs121434408
ensemblrs121434408
gopubmedrs121434408
geneviewrs121434408
scholarrs121434408
googlers121434408
pharmgkbrs121434408
gwascentralrs121434408
openSNPrs121434408
23andMers121434408
23andMe allrs121434408
SNP Nexus

SNPshotrs121434408
SNPdbers121434408
MSV3drs121434408
GWAS Ctlgrs121434408
Max Magnitude0
OMIM603371
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121434408(A;A)
Alt rs121434408(A;A)
Reference rs121434408(G;G)
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.131300337G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006835.3,