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rs869025483

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AGTC;AGTC) 0 common in clinvar
Make rs869025483(AGTC;T)
Make rs869025483(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome14
Position23413805
GeneMHRT, MYH7
is asnp
is mentioned by
dbSNPrs869025483
dbSNP (classic)rs869025483
ClinGenrs869025483
ebirs869025483
HLIrs869025483
Exacrs869025483
Gnomadrs869025483
Varsomers869025483
LitVarrs869025483
Maprs869025483
PheGenIrs869025483
Biobankrs869025483
1000 genomesrs869025483
hgdprs869025483
ensemblrs869025483
geneviewrs869025483
scholarrs869025483
googlers869025483
pharmgkbrs869025483
gwascentralrs869025483
openSNPrs869025483
23andMers869025483
SNPshotrs869025483
SNPdbers869025483
MSV3drs869025483
GWAS Ctlgrs869025483
Max Magnitude0
ClinVar
Risk rs869025483(T;T)
Alt rs869025483(T;T)
Reference Rs869025483(AGTC;AGTC)
Significance Probable-Pathogenic
Disease Primary dilated cardiomyopathy
Variation info
Gene MYH7 MHRT
CLNDBN Primary dilated cardiomyopathy
Reversed 1
HGVS NC_000014.8:g.23883014_23883017delGACTinsA
CLNSRC
CLNACC RCV000208262.1,