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rs869038795

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869038795(A;A)
Make rs869038795(A;G)
ReferenceGRCh38.p7 38.3/149
Chromosome2
Position178565095
GeneTTN, TTN-AS1
is asnp
is mentioned by
dbSNPrs869038795
dbSNP (classic)rs869038795
ClinGenrs869038795
ebirs869038795
HLIrs869038795
Exacrs869038795
Gnomadrs869038795
Varsomers869038795
LitVarrs869038795
Maprs869038795
PheGenIrs869038795
Biobankrs869038795
1000 genomesrs869038795
hgdprs869038795
ensemblrs869038795
geneviewrs869038795
scholarrs869038795
googlers869038795
pharmgkbrs869038795
gwascentralrs869038795
openSNPrs869038795
23andMers869038795
SNPshotrs869038795
SNPdbers869038795
MSV3drs869038795
GWAS Ctlgrs869038795
Max Magnitude0
ClinVar
Risk rs869038795(A;A)
Alt rs869038795(A;A)
Reference Rs869038795(G;G)
Significance Pathogenic
Disease not provided Distal myopathy Markesbery-Griggs type Limb-girdle muscular dystrophy Dilated cardiomyopathy 1G Familial hypertrophic cardiomyopathy 9 Myopathy Hereditary myopathy with early respiratory failure
Variation info
Gene TTN TTN-AS1
CLNDBN not provided Distal myopathy Markesbery-Griggs type Limb-girdle muscular dystrophy, type 2J Dilated cardiomyopathy 1G Familial hypertrophic cardiomyopathy 9 Myopathy, early-onset, with fatal cardiomyopathy Hereditary myopathy with early respiratory failure
Reversed 0
HGVS NC_000002.11:g.179429822G>A
CLNSRC
CLNACC RCV000256162.2, RCV000279826.1, RCV000284470.1, RCV000328725.1, RCV000341704.1, RCV000376608.1, RCV000380000.1,