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rs2244492

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs2244492(A;A)
Make rs2244492(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position178689578
GeneTTN
is asnp
is mentioned by
dbSNPrs2244492
dbSNP (old)rs2244492
ClinGenrs2244492
ebirs2244492
HLIrs2244492
Exacrs2244492
Varsomers2244492
Maprs2244492
PheGenIrs2244492
Biobankrs2244492
1000 genomesrs2244492
hgdprs2244492
ensemblrs2244492
gopubmedrs2244492
geneviewrs2244492
scholarrs2244492
googlers2244492
pharmgkbrs2244492
gwascentralrs2244492
openSNPrs2244492
23andMers2244492
23andMe allrs2244492
SNP Nexus

SNPshotrs2244492
SNPdbers2244492
MSV3drs2244492
GWAS Ctlgrs2244492
Max Magnitude0
? (A;A) (A;G) (G;G) 28
[PMID 26920143OA-icon.png] Analysis of functional germline variants in APOBEC3 and driver genes on breast cancer risk in Moroccan study population.
ClinVar
Risk rs2244492(A;A)
Alt rs2244492(A;A)
Reference Rs2244492(G;G)
Significance Probable-non-pathogenic
Disease not specified Cardiovascular phenotype Hypertrophic cardiomyopathy Dilated Cardiomyopathy Limb-Girdle Muscular Dystrophy Myopathy Distal myopathy Markesbery-Griggs type Hereditary myopathy with early respiratory failure
Variation info
Gene TTN
CLNDBN not specified Cardiovascular phenotype Hypertrophic cardiomyopathy Dilated Cardiomyopathy, Dominant Limb-Girdle Muscular Dystrophy, Recessive Myopathy, early-onset, with fatal cardiomyopathy Distal myopathy Markesbery-Griggs type Hereditary myopathy with early respiratory failure
Reversed 1
HGVS NC_000002.11:g.179554305C>T
CLNSRC
CLNACC RCV000040129.6, RCV000245743.1, RCV000266150.1, RCV000269588.1, RCV000305987.1, RCV000321271.1, RCV000360822.1, RCV000364010.1,