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rs281864933

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AGATGG;AGATGG) 0 common in clinvar
Make rs281864933(-;-)
Make rs281864933(-;AGATGG)
ReferenceGRCh38 38.1/141
Chromosome2
Position178527091
GeneLGR4, TTN
is asnp
is mentioned by
dbSNPrs281864933
ebirs281864933
HLIrs281864933
Exacrs281864933
Varsomers281864933
Maprs281864933
PheGenIrs281864933
hapmaprs281864933
1000 genomesrs281864933
hgdprs281864933
ensemblrs281864933
gopubmedrs281864933
geneviewrs281864933
scholarrs281864933
googlers281864933
pharmgkbrs281864933
gwascentralrs281864933
openSNPrs281864933
23andMers281864933
23andMe allrs281864933
SNP Nexus

SNPshotrs281864933
SNPdbers281864933
MSV3drs281864933
GWAS Ctlgrs281864933
Max Magnitude0
ClinVar
Risk rs281864933(;)
Alt rs281864933(;)
Reference rs281864933(AGATGG;AGATGG)
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.179391818_179391823delCCATCT
CLNSRC ClinVar GeneReviews
CLNACC RCV000031997.2,