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rs794727387

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794727387(G;T)
Make rs794727387(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position178605182
GeneTTN, TTN-AS1
is asnp
is mentioned by
dbSNPrs794727387
ebirs794727387
HLIrs794727387
Exacrs794727387
Varsomers794727387
Maprs794727387
PheGenIrs794727387
hapmaprs794727387
1000 genomesrs794727387
hgdprs794727387
ensemblrs794727387
gopubmedrs794727387
geneviewrs794727387
scholarrs794727387
googlers794727387
pharmgkbrs794727387
gwascentralrs794727387
openSNPrs794727387
23andMers794727387
23andMe allrs794727387
SNP Nexus

SNPshotrs794727387
SNPdbers794727387
MSV3drs794727387
GWAS Ctlgrs794727387
Max Magnitude0
ClinVar
Risk rs794727387(T;T)
Alt rs794727387(T;T)
Reference rs794727387(G;G)
Significance Probable-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.179469909C>A
CLNSRC
CLNACC RCV000176441.1,