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rs121434407

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434407(A;A)
Make rs121434407(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position128536414
GeneGLE1, LOC101929270
is asnp
is mentioned by
dbSNPrs121434407
ebirs121434407
HLIrs121434407
Exacrs121434407
Varsomers121434407
Maprs121434407
PheGenIrs121434407
hapmaprs121434407
1000 genomesrs121434407
hgdprs121434407
ensemblrs121434407
gopubmedrs121434407
geneviewrs121434407
scholarrs121434407
googlers121434407
pharmgkbrs121434407
gwascentralrs121434407
openSNPrs121434407
23andMers121434407
23andMe allrs121434407
SNP Nexus

SNPshotrs121434407
SNPdbers121434407
MSV3drs121434407
GWAS Ctlgrs121434407
Max Magnitude0
OMIM603371
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121434407(A;A)
Alt rs121434407(A;A)
Reference rs121434407(G;G)
Significance Pathogenic
Disease Lethal congenital contracture syndrome 1
Variation info
Gene GLE1 LOC101929270
CLNDBN Lethal congenital contracture syndrome 1
Reversed 0
HGVS NC_000009.11:g.131298693G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006834.3,