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rs281864928

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs281864928(A;A)
Make rs281864928(A;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position178527148
GeneLGR4, TTN
is asnp
is mentioned by
dbSNPrs281864928
ebirs281864928
HLIrs281864928
Exacrs281864928
Varsomers281864928
Maprs281864928
PheGenIrs281864928
hapmaprs281864928
1000 genomesrs281864928
hgdprs281864928
ensemblrs281864928
gopubmedrs281864928
geneviewrs281864928
scholarrs281864928
googlers281864928
pharmgkbrs281864928
gwascentralrs281864928
openSNPrs281864928
23andMers281864928
23andMe allrs281864928
SNP Nexus

SNPshotrs281864928
SNPdbers281864928
MSV3drs281864928
GWAS Ctlgrs281864928
Max Magnitude0
ClinVar
Risk rs281864928(A,C;A,C)
Alt rs281864928(A,C;A,C)
Reference rs281864928(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.179391875A>G; NC_000002.11:g.179391875A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000049799.1, RCV000013490.18,


[PMID 12891679] Tibial muscular dystrophy in a Belgian family.