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rs369947678

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs369947678(A;A)
Make rs369947678(A;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position56565446
GeneUBQLN2
is asnp
is mentioned by
dbSNPrs369947678
dbSNP (classic)rs369947678
ClinGenrs369947678
ebirs369947678
HLIrs369947678
Exacrs369947678
Gnomadrs369947678
Varsomers369947678
LitVarrs369947678
Maprs369947678
PheGenIrs369947678
Biobankrs369947678
1000 genomesrs369947678
hgdprs369947678
ensemblrs369947678
geneviewrs369947678
scholarrs369947678
googlers369947678
pharmgkbrs369947678
gwascentralrs369947678
openSNPrs369947678
23andMers369947678
SNPshotrs369947678
SNPdbers369947678
MSV3drs369947678
GWAS Ctlgrs369947678
Max Magnitude0
ClinVar
Risk rs369947678(A;A) rs369947678(G;G) rs369947678(T;T)
Alt rs369947678(A;A) rs369947678(G;G) rs369947678(T;T)
Reference Rs369947678(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.56591879C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000022846.4,