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rs281864931

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs281864931(A;C)
Make rs281864931(C;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position178527151
GeneLGR4, TTN
is asnp
is mentioned by
dbSNPrs281864931
ebirs281864931
HLIrs281864931
Exacrs281864931
Varsomers281864931
Maprs281864931
PheGenIrs281864931
hapmaprs281864931
1000 genomesrs281864931
hgdprs281864931
ensemblrs281864931
gopubmedrs281864931
geneviewrs281864931
scholarrs281864931
googlers281864931
pharmgkbrs281864931
gwascentralrs281864931
openSNPrs281864931
23andMers281864931
23andMe allrs281864931
SNP Nexus

SNPshotrs281864931
SNPdbers281864931
MSV3drs281864931
GWAS Ctlgrs281864931
Max Magnitude0
ClinVar
Risk rs281864931(C;C)
Alt rs281864931(C;C)
Reference rs281864931(A;A)
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.179391878T>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000031994.2,


[PMID 19911250] The first Italian family with tibial muscular dystrophy caused by a novel titin mutation.