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rs727504239

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs727504239(A;G)
Make rs727504239(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position23427242
GeneMYH7
is asnp
is mentioned by
dbSNPrs727504239
ebirs727504239
HLIrs727504239
Exacrs727504239
Varsomers727504239
Maprs727504239
PheGenIrs727504239
hapmaprs727504239
1000 genomesrs727504239
hgdprs727504239
ensemblrs727504239
gopubmedrs727504239
geneviewrs727504239
scholarrs727504239
googlers727504239
pharmgkbrs727504239
gwascentralrs727504239
openSNPrs727504239
23andMers727504239
23andMe allrs727504239
SNP Nexus

SNPshotrs727504239
SNPdbers727504239
MSV3drs727504239
GWAS Ctlgrs727504239
Max Magnitude0
ClinVar
Risk rs727504239(G;G)
Alt rs727504239(G;G)
Reference rs727504239(A;A)
Significance Pathogenic
Disease Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 1 not provided
Variation info
Gene MYH7
CLNDBN Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 1 not provided
Reversed 1
HGVS NC_000014.8:g.23896451T>C
CLNSRC Centenary Institute
CLNACC RCV000154205.2, RCV000172892.1, RCV000223832.1,