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rs727504336

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AT;AT) 0 common in clinvar
Make rs727504336(-;-)
Make rs727504336(-;AT)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position23428600
GeneMYH7
is asnp
is mentioned by
dbSNPrs727504336
dbSNP (classic)rs727504336
ClinGenrs727504336
ebirs727504336
HLIrs727504336
Exacrs727504336
Gnomadrs727504336
Varsomers727504336
LitVarrs727504336
Maprs727504336
PheGenIrs727504336
Biobankrs727504336
1000 genomesrs727504336
hgdprs727504336
ensemblrs727504336
geneviewrs727504336
scholarrs727504336
googlers727504336
pharmgkbrs727504336
gwascentralrs727504336
openSNPrs727504336
23andMers727504336
SNPshotrs727504336
SNPdbers727504336
MSV3drs727504336
GWAS Ctlgrs727504336
Max Magnitude0
ClinVar
Risk rs727504336(-;-)
Alt rs727504336(-;-)
Reference Rs727504336(AT;AT)
Significance Pathogenic
Disease not specified Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYH7
CLNDBN not specified Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000014.8:g.23897809_23897810delAT
CLNSRC Children's Hospital of Eastern Ontario
CLNACC RCV000154450.1, RCV000168853.2,