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rs1060500549

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060500549(C;C)
Make rs1060500549(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position178768672
GeneTTN
is asnp
is mentioned by
dbSNPrs1060500549
dbSNP (old)rs1060500549
ClinGenrs1060500549
ebirs1060500549
HLIrs1060500549
Exacrs1060500549
Gnomadrs1060500549
Varsomers1060500549
LitVarrs1060500549
Maprs1060500549
PheGenIrs1060500549
Biobankrs1060500549
1000 genomesrs1060500549
hgdprs1060500549
ensemblrs1060500549
gopubmedrs1060500549
geneviewrs1060500549
scholarrs1060500549
googlers1060500549
pharmgkbrs1060500549
gwascentralrs1060500549
openSNPrs1060500549
23andMers1060500549
23andMe allrs1060500549
SNPshotrs1060500549
SNPdbers1060500549
MSV3drs1060500549
GWAS Ctlgrs1060500549
Max Magnitude0
ClinVar
Risk rs1060500549(C;C)
Alt rs1060500549(C;C)
Reference Rs1060500549(G;G)
Significance Pathogenic
Disease Dilated cardiomyopathy 1G Limb-girdle muscular dystrophy Myopathy
Variation info
Gene TTN
CLNDBN Dilated cardiomyopathy 1G Limb-girdle muscular dystrophy, type 2J Myopathy, early-onset, with fatal cardiomyopathy
Reversed 1
HGVS NC_000002.11:g.179633399C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000470325.1, RCV000490775.1,