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rs2069544

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs2069544(C;T)
Make rs2069544(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position23425371
GeneMYH7
is asnp
is mentioned by
dbSNPrs2069544
dbSNP (old)rs2069544
ClinGenrs2069544
ebirs2069544
HLIrs2069544
Exacrs2069544
Gnomadrs2069544
Varsomers2069544
Maprs2069544
PheGenIrs2069544
Biobankrs2069544
1000 genomesrs2069544
hgdprs2069544
ensemblrs2069544
gopubmedrs2069544
geneviewrs2069544
scholarrs2069544
googlers2069544
pharmgkbrs2069544
gwascentralrs2069544
openSNPrs2069544
23andMers2069544
23andMe allrs2069544
SNP Nexus

SNPshotrs2069544
SNPdbers2069544
MSV3drs2069544
GWAS Ctlgrs2069544
Max Magnitude0
ClinVar
Risk rs2069544(A;A) rs2069544(G;G) rs2069544(T;T)
Alt rs2069544(A;A) rs2069544(G;G) rs2069544(T;T)
Reference Rs2069544(C;C)
Significance Other
Disease not specified Cardiovascular phenotype not provided Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYH7
CLNDBN not specified Cardiovascular phenotype not provided Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000014.8:g.23894580G>A; NC_000014.8:g.23894580G>C; NC_000014.8:g.23894580G>T
CLNSRC UniProtKB (protein)
CLNACC RCV000035783.4, RCV000247521.1, RCV000255610.2, RCV000168869.2,