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rs727503244

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs727503244(C;C)
Make rs727503244(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position23417573
GeneMHRT, MIR208B, MYH7
is asnp
is mentioned by
dbSNPrs727503244
dbSNP (classic)rs727503244
ClinGenrs727503244
ebirs727503244
HLIrs727503244
Exacrs727503244
Gnomadrs727503244
Varsomers727503244
LitVarrs727503244
Maprs727503244
PheGenIrs727503244
Biobankrs727503244
1000 genomesrs727503244
hgdprs727503244
ensemblrs727503244
geneviewrs727503244
scholarrs727503244
googlers727503244
pharmgkbrs727503244
gwascentralrs727503244
openSNPrs727503244
23andMers727503244
SNPshotrs727503244
SNPdbers727503244
MSV3drs727503244
GWAS Ctlgrs727503244
Max Magnitude0
ClinVar
Risk rs727503244(C;C)
Alt rs727503244(C;C)
Reference Rs727503244(T;T)
Significance Probable-Pathogenic
Disease not specified Cardiomyopathy Hypertrophic cardiomyopathy
Variation info
Gene MYH7 MHRT MIR208B
CLNDBN not specified Cardiomyopathy, restrictive Hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000014.8:g.23886782A>G
CLNSRC
CLNACC RCV000151240.2, RCV000208499.1, RCV000473362.1,