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rs387906712

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906712(C;T)
Make rs387906712(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position56565398
GeneUBQLN2
is asnp
is mentioned by
dbSNPrs387906712
dbSNP (classic)rs387906712
ClinGenrs387906712
ebirs387906712
HLIrs387906712
Exacrs387906712
Gnomadrs387906712
Varsomers387906712
LitVarrs387906712
Maprs387906712
PheGenIrs387906712
Biobankrs387906712
1000 genomesrs387906712
hgdprs387906712
ensemblrs387906712
geneviewrs387906712
scholarrs387906712
googlers387906712
pharmgkbrs387906712
gwascentralrs387906712
openSNPrs387906712
23andMers387906712
SNPshotrs387906712
SNPdbers387906712
MSV3drs387906712
GWAS Ctlgrs387906712
Max Magnitude0
ClinVar
Risk rs387906712(T;T)
Alt rs387906712(T;T)
Reference Rs387906712(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.56591831C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000022845.13,