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rs184412722

From SNPedia

Orientationplus
Stabilizedplus
Make rs184412722(C;C)
Make rs184412722(C;T)
Make rs184412722(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position178729332
GeneTTN
is asnp
is mentioned by
dbSNPrs184412722
dbSNP (old)rs184412722
ClinGenrs184412722
ebirs184412722
HLIrs184412722
Exacrs184412722
Varsomers184412722
Maprs184412722
PheGenIrs184412722
Biobankrs184412722
1000 genomesrs184412722
hgdprs184412722
ensemblrs184412722
gopubmedrs184412722
geneviewrs184412722
scholarrs184412722
googlers184412722
pharmgkbrs184412722
gwascentralrs184412722
openSNPrs184412722
23andMers184412722
23andMe allrs184412722
SNP Nexus

SNPshotrs184412722
SNPdbers184412722
MSV3drs184412722
GWAS Ctlgrs184412722
Max Magnitude
ClinVar
Risk rs184412722(C;C)
Alt rs184412722(C;C)
Reference rs184412722(T;T)
Significance Other
Disease not specified not provided Dilated cardiomyopathy 1G Limb-girdle muscular dystrophy Myopathy Distal myopathy Markesbery-Griggs type Hereditary myopathy with early respiratory failure Dilated Cardiomyopathy Limb-Girdle Muscular Dystrophy Hypertrophic cardiomyopathy
Variation info
Gene TTN
CLNDBN not specified not provided Dilated cardiomyopathy 1G Limb-girdle muscular dystrophy, type 2J Myopathy, early-onset, with fatal cardiomyopathy Distal myopathy Markesbery-Griggs type Hereditary myopathy with early respiratory failure Dilated Cardiomyopathy, Dominant Limb-Girdle Muscular Dystrophy, Recessive Hypertrophic cardiomyopathy
Reversed 0
HGVS NC_000002.11:g.179594059T>C
CLNSRC
CLNACC RCV000039916.7, RCV000082364.8, RCV000233561.2, RCV000262868.1, RCV000296922.1, RCV000302779.1, RCV000342596.1, RCV000355321.1, RCV000390436.1,