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rs727504843

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727504843(G;T)
Make rs727504843(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position178718815
GeneTTN
is asnp
is mentioned by
dbSNPrs727504843
dbSNP (classic)rs727504843
ClinGenrs727504843
ebirs727504843
HLIrs727504843
Exacrs727504843
Gnomadrs727504843
Varsomers727504843
LitVarrs727504843
Maprs727504843
PheGenIrs727504843
Biobankrs727504843
1000 genomesrs727504843
hgdprs727504843
ensemblrs727504843
geneviewrs727504843
scholarrs727504843
googlers727504843
pharmgkbrs727504843
gwascentralrs727504843
openSNPrs727504843
23andMers727504843
SNPshotrs727504843
SNPdbers727504843
MSV3drs727504843
GWAS Ctlgrs727504843
Max Magnitude0
ClinVar
Risk rs727504843(T;T)
Alt rs727504843(T;T)
Reference Rs727504843(G;G)
Significance Probable-Pathogenic
Disease Primary dilated cardiomyopathy
Variation info
Gene TTN
CLNDBN Primary dilated cardiomyopathy
Reversed 1
HGVS NC_000002.11:g.179583542C>A
CLNSRC
CLNACC RCV000156186.1,