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rs775180716

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs775180716(C;T)
Make rs775180716(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome10
Position86692544
GeneLDB3
is asnp
is mentioned by
dbSNPrs775180716
dbSNP (classic)rs775180716
ClinGenrs775180716
ebirs775180716
HLIrs775180716
Exacrs775180716
Gnomadrs775180716
Varsomers775180716
LitVarrs775180716
Maprs775180716
PheGenIrs775180716
Biobankrs775180716
1000 genomesrs775180716
hgdprs775180716
ensemblrs775180716
geneviewrs775180716
scholarrs775180716
googlers775180716
pharmgkbrs775180716
gwascentralrs775180716
openSNPrs775180716
23andMers775180716
SNPshotrs775180716
SNPdbers775180716
MSV3drs775180716
GWAS Ctlgrs775180716
Max Magnitude0
ClinVar
Risk rs775180716(T;T)
Alt rs775180716(T;T)
Reference Rs775180716(C;C)
Significance Pathogenic
Disease Myofibrillar myopathy
Variation info
Gene LDB3
CLNDBN Myofibrillar myopathy
Reversed 0
HGVS NC_000010.10:g.88452301C>T
CLNSRC
CLNACC RCV000239712.1,