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rs281864932

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs281864932(-;-)
Make rs281864932(-;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position178527479
GeneLGR4, TTN
is asnp
is mentioned by
dbSNPrs281864932
ebirs281864932
HLIrs281864932
Exacrs281864932
Varsomers281864932
Maprs281864932
PheGenIrs281864932
hapmaprs281864932
1000 genomesrs281864932
hgdprs281864932
ensemblrs281864932
gopubmedrs281864932
geneviewrs281864932
scholarrs281864932
googlers281864932
pharmgkbrs281864932
gwascentralrs281864932
openSNPrs281864932
23andMers281864932
23andMe allrs281864932
SNP Nexus

SNPshotrs281864932
SNPdbers281864932
MSV3drs281864932
GWAS Ctlgrs281864932
Max Magnitude0
ClinVar
Risk rs281864932(;)
Alt rs281864932(;)
Reference rs281864932(T;T)
Significance Pathogenic
Disease Distal myopathy Markesbery-Griggs type
Variation info
Gene TTN TTN-AS1
CLNDBN Distal myopathy Markesbery-Griggs type
Reversed 1
HGVS NC_000002.11:g.179392206delA
CLNSRC ClinVar GeneReviews
CLNACC RCV000031998.2,


[PMID 18948003] Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).