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rs202094100

From SNPedia

Orientationplus
Stabilizedplus
Make rs202094100(A;A)
Make rs202094100(A;C)
ReferenceGRCh38.p7 38.3/149
Chromosome2
Position178613870
GeneTTN, TTN-AS1
is asnp
is mentioned by
dbSNPrs202094100
dbSNP (classic)rs202094100
ClinGenrs202094100
ebirs202094100
HLIrs202094100
Exacrs202094100
Gnomadrs202094100
Varsomers202094100
LitVarrs202094100
Maprs202094100
PheGenIrs202094100
Biobankrs202094100
1000 genomesrs202094100
hgdprs202094100
ensemblrs202094100
geneviewrs202094100
scholarrs202094100
googlers202094100
pharmgkbrs202094100
gwascentralrs202094100
openSNPrs202094100
23andMers202094100
23andMe allrs202094100
SNPshotrs202094100
SNPdbers202094100
MSV3drs202094100
GWAS Ctlgrs202094100
Max Magnitude0
ClinVar
Risk rs202094100(A;A) rs202094100(T;T)
Alt rs202094100(A;A) rs202094100(T;T)
Reference Rs202094100(C;C)
Significance Pathogenic
Disease not specified not provided Cardiovascular phenotype Hypertrophic cardiomyopathy Distal myopathy Markesbery-Griggs type Dilated Cardiomyopathy Limb-Girdle Muscular Dystrophy Myopathy Hereditary myopathy with early respiratory failure
Variation info
Gene TTN TTN-AS1
CLNDBN not specified not provided Cardiovascular phenotype Hypertrophic cardiomyopathy Distal myopathy Markesbery-Griggs type Dilated Cardiomyopathy, Dominant Limb-Girdle Muscular Dystrophy, Recessive Myopathy, early-onset, with fatal cardiomyopathy Hereditary myopathy with early respiratory failure
Reversed 0
HGVS NC_000002.11:g.179478597C>A; NC_000002.11:g.179478597C>T
CLNSRC Illumina
CLNACC RCV000040300.2, RCV000184581.1, RCV000248683.1, RCV000262625.1, RCV000275689.1, RCV000317820.1, RCV000330719.1, RCV000357355.1, RCV000372520.1, RCV000255219.1,