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rs387906710

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906710(C;T)
Make rs387906710(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position56565362
GeneUBQLN2
is asnp
is mentioned by
dbSNPrs387906710
dbSNP (classic)rs387906710
ClinGenrs387906710
ebirs387906710
HLIrs387906710
Exacrs387906710
Gnomadrs387906710
Varsomers387906710
LitVarrs387906710
Maprs387906710
PheGenIrs387906710
Biobankrs387906710
1000 genomesrs387906710
hgdprs387906710
ensemblrs387906710
geneviewrs387906710
scholarrs387906710
googlers387906710
pharmgkbrs387906710
gwascentralrs387906710
openSNPrs387906710
23andMers387906710
SNPshotrs387906710
SNPdbers387906710
MSV3drs387906710
GWAS Ctlgrs387906710
Max Magnitude0
ClinVar
Risk rs387906710(T;T)
Alt rs387906710(T;T)
Reference Rs387906710(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.56591795C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000022843.13,