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rs727503252

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727503252(A;A)
Make rs727503252(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position23424047
GeneMYH7
is asnp
is mentioned by
dbSNPrs727503252
dbSNP (classic)rs727503252
ClinGenrs727503252
ebirs727503252
HLIrs727503252
Exacrs727503252
Gnomadrs727503252
Varsomers727503252
LitVarrs727503252
Maprs727503252
PheGenIrs727503252
Biobankrs727503252
1000 genomesrs727503252
hgdprs727503252
ensemblrs727503252
geneviewrs727503252
scholarrs727503252
googlers727503252
pharmgkbrs727503252
gwascentralrs727503252
openSNPrs727503252
23andMers727503252
SNPshotrs727503252
SNPdbers727503252
MSV3drs727503252
GWAS Ctlgrs727503252
Max Magnitude0
ClinVar
Risk rs727503252(A;A)
Alt rs727503252(A;A)
Reference Rs727503252(G;G)
Significance Probable-Pathogenic
Disease Primary familial hypertrophic cardiomyopathy not provided
Variation info
Gene MYH7
CLNDBN Primary familial hypertrophic cardiomyopathy not provided
Reversed 1
HGVS NC_000014.8:g.23893256C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000151257.1, RCV000158574.2,