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rs281864930

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs281864930(-;-)
Make rs281864930(-;A)
ReferenceGRCh38 38.1/141
Chromosome2
Position178527099
GeneLGR4, TTN
is asnp
is mentioned by
dbSNPrs281864930
ebirs281864930
HLIrs281864930
Exacrs281864930
Varsomers281864930
Maprs281864930
PheGenIrs281864930
hapmaprs281864930
1000 genomesrs281864930
hgdprs281864930
ensemblrs281864930
gopubmedrs281864930
geneviewrs281864930
scholarrs281864930
googlers281864930
pharmgkbrs281864930
gwascentralrs281864930
openSNPrs281864930
23andMers281864930
23andMe allrs281864930
SNP Nexus

SNPshotrs281864930
SNPdbers281864930
MSV3drs281864930
GWAS Ctlgrs281864930
Max Magnitude0
ClinVar
Risk rs281864930(;)
Alt rs281864930(;)
Reference rs281864930(A;A)
Significance Other
Disease Distal myopathy Markesbery-Griggs type not provided
Variation info
Gene TTN TTN-AS1
CLNDBN Distal myopathy Markesbery-Griggs type not provided
Reversed 1
HGVS NC_000002.11:g.179391826delT
CLNSRC ClinVar GeneReviews
CLNACC RCV000031995.3, RCV000184369.2,


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