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rs281865143

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281865143(C;T)
Make rs281865143(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position86687164
GeneLDB3
is asnp
is mentioned by
dbSNPrs281865143
ebirs281865143
HLIrs281865143
Exacrs281865143
Varsomers281865143
Maprs281865143
PheGenIrs281865143
hapmaprs281865143
1000 genomesrs281865143
hgdprs281865143
ensemblrs281865143
gopubmedrs281865143
geneviewrs281865143
scholarrs281865143
googlers281865143
pharmgkbrs281865143
gwascentralrs281865143
openSNPrs281865143
23andMers281865143
23andMe allrs281865143
SNP Nexus

SNPshotrs281865143
SNPdbers281865143
MSV3drs281865143
GWAS Ctlgrs281865143
Max Magnitude0
ClinVar
Risk rs281865143(T;T)
Alt rs281865143(T;T)
Reference rs281865143(C;C)
Significance Pathogenic
Disease Myofibrillar myopathy
Variation info
Gene LDB3
CLNDBN Myofibrillar myopathy, ZASP-related
Reversed 0
HGVS NC_000010.10:g.88446921C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000033938.2,