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rs786205905

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs786205905(A;A)
Make rs786205905(A;T)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position23428600
GeneMYH7
is asnp
is mentioned by
dbSNPrs786205905
dbSNP (classic)rs786205905
ClinGenrs786205905
ebirs786205905
HLIrs786205905
Exacrs786205905
Gnomadrs786205905
Varsomers786205905
LitVarrs786205905
Maprs786205905
PheGenIrs786205905
Biobankrs786205905
1000 genomesrs786205905
hgdprs786205905
ensemblrs786205905
geneviewrs786205905
scholarrs786205905
googlers786205905
pharmgkbrs786205905
gwascentralrs786205905
openSNPrs786205905
23andMers786205905
SNPshotrs786205905
SNPdbers786205905
MSV3drs786205905
GWAS Ctlgrs786205905
Max Magnitude0
ClinVar
Risk rs786205905(A;A)
Alt rs786205905(A;A)
Reference Rs786205905(T;T)
Significance Probable-Pathogenic
Disease Familial hypertrophic cardiomyopathy 1
Variation info
Gene MYH7
CLNDBN Familial hypertrophic cardiomyopathy 1
Reversed 1
HGVS NC_000014.8:g.23897809A>T
CLNSRC Centenary Institute
CLNACC RCV000172883.1,