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rs565675340

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs565675340(A;A)
Make rs565675340(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position178528797
GeneTTN, TTN-AS1
is asnp
is mentioned by
dbSNPrs565675340
ebirs565675340
HLIrs565675340
Exacrs565675340
Varsomers565675340
Maprs565675340
PheGenIrs565675340
hapmaprs565675340
1000 genomesrs565675340
hgdprs565675340
ensemblrs565675340
gopubmedrs565675340
geneviewrs565675340
scholarrs565675340
googlers565675340
pharmgkbrs565675340
gwascentralrs565675340
openSNPrs565675340
23andMers565675340
23andMe allrs565675340
SNP Nexus

SNPshotrs565675340
SNPdbers565675340
MSV3drs565675340
GWAS Ctlgrs565675340
Max Magnitude0
ClinVar
Risk rs565675340(A;A)
Alt rs565675340(A;A)
Reference rs565675340(G;G)
Significance Probable-Pathogenic
Disease Limb-girdle muscular dystrophy Myopathy
Variation info
Gene TTN TTN-AS1
CLNDBN Limb-girdle muscular dystrophy, type 2J Myopathy, early-onset, with fatal cardiomyopathy
Reversed 0
HGVS NC_000002.11:g.179393524G>A
CLNSRC
CLNACC RCV000197581.1,