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rs727503299

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727503299(A;A)
Make rs727503299(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position110915765
GeneMYL2
is asnp
is mentioned by
dbSNPrs727503299
dbSNP (classic)rs727503299
ClinGenrs727503299
ebirs727503299
HLIrs727503299
Exacrs727503299
Gnomadrs727503299
Varsomers727503299
LitVarrs727503299
Maprs727503299
PheGenIrs727503299
Biobankrs727503299
1000 genomesrs727503299
hgdprs727503299
ensemblrs727503299
geneviewrs727503299
scholarrs727503299
googlers727503299
pharmgkbrs727503299
gwascentralrs727503299
openSNPrs727503299
23andMers727503299
SNPshotrs727503299
SNPdbers727503299
MSV3drs727503299
GWAS Ctlgrs727503299
Max Magnitude0
ClinVar
Risk rs727503299(A;A) rs727503299(C;C) rs727503299(T;T)
Alt rs727503299(A;A) rs727503299(C;C) rs727503299(T;T)
Reference Rs727503299(G;G)
Significance Probable-Pathogenic
Disease not specified Familial hypertrophic cardiomyopathy 10
Variation info
Gene MYL2
CLNDBN not specified Familial hypertrophic cardiomyopathy 10
Reversed 1
HGVS NC_000012.11:g.111353569C>A; NC_000012.11:g.111353569C>T
CLNSRC
CLNACC RCV000155752.1, RCV000463477.1, RCV000151367.3, RCV000464490.1,