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rs4893853

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common genotype
Make rs4893853(C;C)
Make rs4893853(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position178767769
GeneTTN
is asnp
is mentioned by
dbSNPrs4893853
dbSNP (classic)rs4893853
ClinGenrs4893853
ebirs4893853
HLIrs4893853
Exacrs4893853
Gnomadrs4893853
Varsomers4893853
LitVarrs4893853
Maprs4893853
PheGenIrs4893853
Biobankrs4893853
1000 genomesrs4893853
hgdprs4893853
ensemblrs4893853
geneviewrs4893853
scholarrs4893853
googlers4893853
pharmgkbrs4893853
gwascentralrs4893853
openSNPrs4893853
23andMers4893853
SNPshotrs4893853
SNPdbers4893853
MSV3drs4893853
GWAS Ctlgrs4893853
Max Magnitude0
? (C;C) (C;T) (T;T) 28


ClinVar
Risk rs4893853(C;C)
Alt rs4893853(C;C)
Reference Rs4893853(T;T)
Significance Other
Disease not specified Cardiovascular phenotype Distal myopathy Markesbery-Griggs type Hypertrophic cardiomyopathy Dilated Cardiomyopathy Hereditary myopathy with early respiratory failure Myopathy Limb-Girdle Muscular Dystrophy
Variation info
Gene TTN
CLNDBN not specified Cardiovascular phenotype Distal myopathy Markesbery-Griggs type Hypertrophic cardiomyopathy Dilated Cardiomyopathy, Dominant Hereditary myopathy with early respiratory failure Myopathy, early-onset, with fatal cardiomyopathy Limb-Girdle Muscular Dystrophy, Recessive
Reversed 0
HGVS NC_000002.11:g.179632496T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000040917.8, RCV000242068.1, RCV000270661.1, RCV000276371.1, RCV000325661.1, RCV000331451.1, RCV000364714.1, RCV000389547.1,