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rs281864929

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281864929(C;T)
Make rs281864929(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position178527098
GeneLGR4, TTN
is asnp
is mentioned by
dbSNPrs281864929
ebirs281864929
HLIrs281864929
Exacrs281864929
Varsomers281864929
Maprs281864929
PheGenIrs281864929
hapmaprs281864929
1000 genomesrs281864929
hgdprs281864929
ensemblrs281864929
gopubmedrs281864929
geneviewrs281864929
scholarrs281864929
googlers281864929
pharmgkbrs281864929
gwascentralrs281864929
openSNPrs281864929
23andMers281864929
23andMe allrs281864929
SNP Nexus

SNPshotrs281864929
SNPdbers281864929
MSV3drs281864929
GWAS Ctlgrs281864929
Max Magnitude0
ClinVar
Risk rs281864929(T;T)
Alt rs281864929(T;T)
Reference rs281864929(C;C)
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.179391825G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000031996.2,


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