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rs746721983

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs746721983(A;A)
Make rs746721983(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position178706629
GeneTTN
is asnp
is mentioned by
dbSNPrs746721983
dbSNP (classic)rs746721983
ClinGenrs746721983
ebirs746721983
HLIrs746721983
Exacrs746721983
Gnomadrs746721983
Varsomers746721983
LitVarrs746721983
Maprs746721983
PheGenIrs746721983
Biobankrs746721983
1000 genomesrs746721983
hgdprs746721983
ensemblrs746721983
geneviewrs746721983
scholarrs746721983
googlers746721983
pharmgkbrs746721983
gwascentralrs746721983
openSNPrs746721983
23andMers746721983
SNPshotrs746721983
SNPdbers746721983
MSV3drs746721983
GWAS Ctlgrs746721983
Max Magnitude0
ClinVar
Risk rs746721983(A;A)
Alt rs746721983(A;A)
Reference Rs746721983(G;G)
Significance Pathogenic
Disease Myopathy
Variation info
Gene TTN
CLNDBN Myopathy
Reversed 0
HGVS NC_000002.11:g.179571356G>A
CLNSRC
CLNACC RCV000195104.1,