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rs281864927

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AAGTAACATGG;AAGTAACATGG) 0 common in clinvar
Make rs281864927(AAGTAACATGG;TGAAAGAAAAA)
Make rs281864927(TGAAAGAAAAA;TGAAAGAAAAA)
ReferenceGRCh38 38.1/141
Chromosome2
Position178527198
GeneTTN, TTN-AS1
is asnp
is mentioned by
dbSNPrs281864927
dbSNP (old)rs281864927
ClinGenrs281864927
ebirs281864927
HLIrs281864927
Exacrs281864927
Gnomadrs281864927
Varsomers281864927
Maprs281864927
PheGenIrs281864927
Biobankrs281864927
1000 genomesrs281864927
hgdprs281864927
ensemblrs281864927
gopubmedrs281864927
geneviewrs281864927
scholarrs281864927
googlers281864927
pharmgkbrs281864927
gwascentralrs281864927
openSNPrs281864927
23andMers281864927
23andMe allrs281864927
SNP Nexus

SNPshotrs281864927
SNPdbers281864927
MSV3drs281864927
GWAS Ctlgrs281864927
Max Magnitude0
ClinVar
Risk rs281864927(TGAAAGAAAAA;TGAAAGAAAAA)
Alt rs281864927(TGAAAGAAAAA;TGAAAGAAAAA)
Reference Rs281864927(AAGTAACATGG;AAGTAACATGG)
Significance Pathogenic
Disease Distal myopathy Markesbery-Griggs type Limb-girdle muscular dystrophy Hereditary myopathy with early respiratory failure Myopathy Familial hypertrophic cardiomyopathy 9
Variation info
Gene TTN TTN-AS1
CLNDBN Distal myopathy Markesbery-Griggs type Limb-girdle muscular dystrophy, type 2J Hereditary myopathy with early respiratory failure Myopathy, early-onset, with fatal cardiomyopathy Familial hypertrophic cardiomyopathy 9
Reversed 1
HGVS NC_000002.11:g.179391925_179391935delCCATGTTACTTinsTTTTTCTTTCA
CLNSRC OMIM Allelic Variant
CLNACC RCV000013487.27, RCV000013488.25, RCV000293165.1, RCV000350386.1, RCV000406890.1,


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