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rs387906711

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906711(A;A)
Make rs387906711(A;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position56565389
GeneUBQLN2
is asnp
is mentioned by
dbSNPrs387906711
dbSNP (classic)rs387906711
ClinGenrs387906711
ebirs387906711
HLIrs387906711
Exacrs387906711
Gnomadrs387906711
Varsomers387906711
LitVarrs387906711
Maprs387906711
PheGenIrs387906711
Biobankrs387906711
1000 genomesrs387906711
hgdprs387906711
ensemblrs387906711
geneviewrs387906711
scholarrs387906711
googlers387906711
pharmgkbrs387906711
gwascentralrs387906711
openSNPrs387906711
23andMers387906711
SNPshotrs387906711
SNPdbers387906711
MSV3drs387906711
GWAS Ctlgrs387906711
Max Magnitude0
ClinVar
Risk rs387906711(A;A)
Alt rs387906711(A;A)
Reference Rs387906711(C;C)
Significance Pathogenic
Disease Amyotrophic lateral sclerosis 15
Variation info
Gene UBQLN2
CLNDBN Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia
Reversed 0
HGVS NC_000023.10:g.56591822C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000022844.22,