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rs200939753

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs200939753(C;T)
Make rs200939753(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position23415225
GeneMHRT, MYH7
is asnp
is mentioned by
dbSNPrs200939753
ebirs200939753
HLIrs200939753
Exacrs200939753
Varsomers200939753
Maprs200939753
PheGenIrs200939753
hapmaprs200939753
1000 genomesrs200939753
hgdprs200939753
ensemblrs200939753
gopubmedrs200939753
geneviewrs200939753
scholarrs200939753
googlers200939753
pharmgkbrs200939753
gwascentralrs200939753
openSNPrs200939753
23andMers200939753
23andMe allrs200939753
SNP Nexus

SNPshotrs200939753
SNPdbers200939753
MSV3drs200939753
GWAS Ctlgrs200939753
Max Magnitude0
ClinVar
Risk rs200939753(T;T)
Alt rs200939753(T;T)
Reference rs200939753(C;C)
Significance Pathogenic
Disease not specified Primary familial hypertrophic cardiomyopathy Camptocormism
Variation info
Gene MYH7 MHRT
CLNDBN not specified Primary familial hypertrophic cardiomyopathy Camptocormism
Reversed 0
HGVS NC_000014.8:g.23884434C>T
CLNSRC
CLNACC RCV000154298.1, RCV000171839.2, RCV000186557.1,