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rs121434378

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434378(A;A)
Make rs121434378(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position132283403
GeneSETX
is asnp
is mentioned by
dbSNPrs121434378
dbSNP (classic)rs121434378
ClinGenrs121434378
ebirs121434378
HLIrs121434378
Exacrs121434378
Gnomadrs121434378
Varsomers121434378
LitVarrs121434378
Maprs121434378
PheGenIrs121434378
Biobankrs121434378
1000 genomesrs121434378
hgdprs121434378
ensemblrs121434378
geneviewrs121434378
scholarrs121434378
googlers121434378
pharmgkbrs121434378
gwascentralrs121434378
openSNPrs121434378
23andMers121434378
SNPshotrs121434378
SNPdbers121434378
MSV3drs121434378
GWAS Ctlgrs121434378
Max Magnitude0
OMIM608465
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121434378(A;A)
Alt rs121434378(A;A)
Reference Rs121434378(G;G)
Significance Pathogenic
Disease Amyotrophic lateral sclerosis type 4
Variation info
Gene SETX
CLNDBN Amyotrophic lateral sclerosis type 4
Reversed 1
HGVS NC_000009.11:g.135158790C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000002381.3,