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rs1060501452

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060501452(A;A)
Make rs1060501452(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position23429304
GeneMYH7
is asnp
is mentioned by
dbSNPrs1060501452
dbSNP (classic)rs1060501452
ClinGenrs1060501452
ebirs1060501452
HLIrs1060501452
Exacrs1060501452
Gnomadrs1060501452
Varsomers1060501452
LitVarrs1060501452
Maprs1060501452
PheGenIrs1060501452
Biobankrs1060501452
1000 genomesrs1060501452
hgdprs1060501452
ensemblrs1060501452
geneviewrs1060501452
scholarrs1060501452
googlers1060501452
pharmgkbrs1060501452
gwascentralrs1060501452
openSNPrs1060501452
23andMers1060501452
SNPshotrs1060501452
SNPdbers1060501452
MSV3drs1060501452
GWAS Ctlgrs1060501452
Max Magnitude0
ClinVar
Risk rs1060501452(A;A)
Alt rs1060501452(A;A)
Reference Rs1060501452(C;C)
Significance Probable-Pathogenic
Disease Hypertrophic cardiomyopathy
Variation info
Gene MYH7
CLNDBN Hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000014.8:g.23898513G>T
CLNSRC
CLNACC RCV000472981.1,