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rs571093313

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs571093313(A;A)
Make rs571093313(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position178582086
GeneTTN, TTN-AS1
is asnp
is mentioned by
dbSNPrs571093313
dbSNP (classic)rs571093313
ClinGenrs571093313
ebirs571093313
HLIrs571093313
Exacrs571093313
Gnomadrs571093313
Varsomers571093313
LitVarrs571093313
Maprs571093313
PheGenIrs571093313
Biobankrs571093313
1000 genomesrs571093313
hgdprs571093313
ensemblrs571093313
geneviewrs571093313
scholarrs571093313
googlers571093313
pharmgkbrs571093313
gwascentralrs571093313
openSNPrs571093313
23andMers571093313
SNPshotrs571093313
SNPdbers571093313
MSV3drs571093313
GWAS Ctlgrs571093313
Max Magnitude0
ClinVar
Risk rs571093313(A;A)
Alt rs571093313(A;A)
Reference Rs571093313(G;G)
Significance Probable-non-pathogenic
Disease not specified Myopathy Hereditary myopathy with early respiratory failure Limb-Girdle Muscular Dystrophy Dilated Cardiomyopathy Distal myopathy Markesbery-Griggs type Hypertrophic cardiomyopathy
Variation info
Gene TTN TTN-AS1
CLNDBN not specified Myopathy, early-onset, with fatal cardiomyopathy Hereditary myopathy with early respiratory failure Limb-Girdle Muscular Dystrophy, Recessive Dilated Cardiomyopathy, Dominant Distal myopathy Markesbery-Griggs type Hypertrophic cardiomyopathy
Reversed 0
HGVS NC_000002.11:g.179446813G>A
CLNSRC
CLNACC RCV000171317.2, RCV000288338.1, RCV000303449.1, RCV000340260.1, RCV000343261.1, RCV000406446.1, RCV000406866.1,