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rs199474814

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199474814(A;A)
Make rs199474814(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position110911094
GeneMYL2
is asnp
is mentioned by
dbSNPrs199474814
dbSNP (classic)rs199474814
ClinGenrs199474814
ebirs199474814
HLIrs199474814
Exacrs199474814
Gnomadrs199474814
Varsomers199474814
LitVarrs199474814
Maprs199474814
PheGenIrs199474814
Biobankrs199474814
1000 genomesrs199474814
hgdprs199474814
ensemblrs199474814
geneviewrs199474814
scholarrs199474814
googlers199474814
pharmgkbrs199474814
gwascentralrs199474814
openSNPrs199474814
23andMers199474814
SNPshotrs199474814
SNPdbers199474814
MSV3drs199474814
GWAS Ctlgrs199474814
Max Magnitude0
ClinVar
Risk rs199474814(A;A)
Alt rs199474814(A;A)
Reference Rs199474814(G;G)
Significance Other
Disease not provided Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 10
Variation info
Gene MYL2
CLNDBN not provided Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 10
Reversed 1
HGVS NC_000012.11:g.111348898C>T
CLNSRC
CLNACC RCV000119380.2, RCV000156897.2, RCV000226326.1,