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rs200797552

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common genotype
Make rs200797552(C;T)
Make rs200797552(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome2
Position178578078
GeneTTN, TTN-AS1
is asnp
is mentioned by
dbSNPrs200797552
dbSNP (classic)rs200797552
ClinGenrs200797552
ebirs200797552
HLIrs200797552
Exacrs200797552
Gnomadrs200797552
Varsomers200797552
LitVarrs200797552
Maprs200797552
PheGenIrs200797552
Biobankrs200797552
1000 genomesrs200797552
hgdprs200797552
ensemblrs200797552
geneviewrs200797552
scholarrs200797552
googlers200797552
pharmgkbrs200797552
gwascentralrs200797552
openSNPrs200797552
23andMers200797552
23andMe allrs200797552
SNPshotrs200797552
SNPdbers200797552
MSV3drs200797552
GWAS Ctlgrs200797552
Max Magnitude0
ClinVar
Risk rs200797552(A;A) rs200797552(T;T)
Alt rs200797552(A;A) rs200797552(T;T)
Reference Rs200797552(C;C)
Significance Other
Disease Primary dilated cardiomyopathy not specified not provided Dilated cardiomyopathy 1G Limb-girdle muscular dystrophy Cardiovascular phenotype Distal myopathy Markesbery-Griggs type Myopathy Dilated Cardiomyopathy Hypertrophic cardiomyopathy Hereditary myopathy with early respiratory failure Limb-Girdle Muscular Dystrophy
Variation info
Gene TTN TTN-AS1
CLNDBN Primary dilated cardiomyopathy not specified not provided Dilated cardiomyopathy 1G Limb-girdle muscular dystrophy, type 2J Cardiovascular phenotype Distal myopathy Markesbery-Griggs type Myopathy, early-onset, with fatal cardiomyopathy Dilated Cardiomyopathy, Dominant Hypertrophic cardiomyopathy Hereditary myopathy with early respiratory failure Limb-Girdle Muscular Dystrophy, Recessive
Reversed 0
HGVS NC_000002.11:g.179442805C>A; NC_000002.11:g.179442805C>T
CLNSRC Illumina
CLNACC RCV000208381.1, RCV000154926.1, RCV000172272.3, RCV000234385.2, RCV000248442.1, RCV000261085.1, RCV000262197.1, RCV000316255.1, RCV000322486.1, RCV000370118.1, RCV000375502.1,