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rs371788070

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs371788070(C;G)
Make rs371788070(G;G)
ReferenceGRCh38.p7 38.3/149
Chromosome2
Position178562851
GeneTTN, TTN-AS1
is asnp
is mentioned by
dbSNPrs371788070
dbSNP (classic)rs371788070
ClinGenrs371788070
ebirs371788070
HLIrs371788070
Exacrs371788070
Gnomadrs371788070
Varsomers371788070
LitVarrs371788070
Maprs371788070
PheGenIrs371788070
Biobankrs371788070
1000 genomesrs371788070
hgdprs371788070
ensemblrs371788070
geneviewrs371788070
scholarrs371788070
googlers371788070
pharmgkbrs371788070
gwascentralrs371788070
openSNPrs371788070
23andMers371788070
23andMe allrs371788070
SNPshotrs371788070
SNPdbers371788070
MSV3drs371788070
GWAS Ctlgrs371788070
Max Magnitude0
ClinVar
Risk rs371788070(G;G) rs371788070(T;T)
Alt rs371788070(G;G) rs371788070(T;T)
Reference Rs371788070(C;C)
Significance Probable-Pathogenic
Disease Dilated Cardiomyopathy Hereditary myopathy with early respiratory failure Myopathy Limb-Girdle Muscular Dystrophy Distal myopathy Markesbery-Griggs type Hypertrophic cardiomyopathy not specified not provided Dilated cardiomyopathy 1G Limb-girdle muscular dystrophy
Variation info
Gene TTN TTN-AS1
CLNDBN Dilated Cardiomyopathy, Dominant Hereditary myopathy with early respiratory failure Myopathy, early-onset, with fatal cardiomyopathy Limb-Girdle Muscular Dystrophy, Recessive Distal myopathy Markesbery-Griggs type Hypertrophic cardiomyopathy not specified not provided Dilated cardiomyopathy 1G Limb-girdle muscular dystrophy, type 2J
Reversed 0
HGVS NC_000002.11:g.179427578C>G; NC_000002.11:g.179427578C>T
CLNSRC Illumina
CLNACC RCV000267737.1, RCV000268849.1, RCV000322601.1, RCV000328564.1, RCV000363314.1, RCV000387425.1, RCV000040692.4, RCV000171313.5, RCV000466706.1,