Have questions? Visit https://www.reddit.com/r/SNPedia

rs754717390

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs754717390(C;G)
Make rs754717390(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position178601653
GeneTTN, TTN-AS1
is asnp
is mentioned by
dbSNPrs754717390
dbSNP (old)rs754717390
ClinGenrs754717390
ebirs754717390
HLIrs754717390
Exacrs754717390
Varsomers754717390
Maprs754717390
PheGenIrs754717390
Biobankrs754717390
1000 genomesrs754717390
hgdprs754717390
ensemblrs754717390
gopubmedrs754717390
geneviewrs754717390
scholarrs754717390
googlers754717390
pharmgkbrs754717390
gwascentralrs754717390
openSNPrs754717390
23andMers754717390
23andMe allrs754717390
SNP Nexus

SNPshotrs754717390
SNPdbers754717390
MSV3drs754717390
GWAS Ctlgrs754717390
Max Magnitude0
ClinVar
Risk rs754717390(G;G)
Alt rs754717390(G;G)
Reference Rs754717390(C;C)
Significance Pathogenic
Disease not provided Limb-Girdle Muscular Dystrophy Hereditary myopathy with early respiratory failure Hypertrophic cardiomyopathy Distal myopathy Markesbery-Griggs type Dilated Cardiomyopathy Myopathy
Variation info
Gene TTN TTN-AS1
CLNDBN not provided Limb-Girdle Muscular Dystrophy, Recessive Hereditary myopathy with early respiratory failure Hypertrophic cardiomyopathy Distal myopathy Markesbery-Griggs type Dilated Cardiomyopathy, Dominant Myopathy, early-onset, with fatal cardiomyopathy
Reversed 0
HGVS NC_000002.11:g.179466380C>G
CLNSRC
CLNACC RCV000184239.2, RCV000278169.1, RCV000295999.1, RCV000331273.1, RCV000350933.1, RCV000385626.1, RCV000405475.1,