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rs727502799

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs727502799(-;-)
Make rs727502799(-;AA)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position69119255
GeneLMOD3
is asnp
is mentioned by
dbSNPrs727502799
dbSNP (classic)rs727502799
ClinGenrs727502799
ebirs727502799
HLIrs727502799
Exacrs727502799
Gnomadrs727502799
Varsomers727502799
LitVarrs727502799
Maprs727502799
PheGenIrs727502799
Biobankrs727502799
1000 genomesrs727502799
hgdprs727502799
ensemblrs727502799
geneviewrs727502799
scholarrs727502799
googlers727502799
pharmgkbrs727502799
gwascentralrs727502799
openSNPrs727502799
23andMers727502799
SNPshotrs727502799
SNPdbers727502799
MSV3drs727502799
GWAS Ctlgrs727502799
Max Magnitude0
ClinVar
Risk rs727502799(-;-)
Alt rs727502799(-;-)
Reference Rs727502799(AA;AA)
Significance Pathogenic
Disease Nemaline myopathy 10
Variation info
Gene LMOD3
CLNDBN Nemaline myopathy 10
Reversed 1
HGVS NC_000003.11:g.69168406_69168407delTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000149598.4,