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rs45478699

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs45478699(G;T)
Make rs45478699(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position23421008
GeneMYH7
is asnp
is mentioned by
dbSNPrs45478699
ebirs45478699
HLIrs45478699
Exacrs45478699
Varsomers45478699
Maprs45478699
PheGenIrs45478699
hapmaprs45478699
1000 genomesrs45478699
hgdprs45478699
ensemblrs45478699
gopubmedrs45478699
geneviewrs45478699
scholarrs45478699
googlers45478699
pharmgkbrs45478699
gwascentralrs45478699
openSNPrs45478699
23andMers45478699
23andMe allrs45478699
SNP Nexus

SNPshotrs45478699
SNPdbers45478699
MSV3drs45478699
GWAS Ctlgrs45478699
Max Magnitude0
ClinVar
Risk rs45478699(T;T)
Alt rs45478699(T;T)
Reference rs45478699(G;G)
Significance Pathogenic
Disease not specified Familial hypertrophic cardiomyopathy 1
Variation info
Gene MYH7
CLNDBN not specified Familial hypertrophic cardiomyopathy 1
Reversed 1
HGVS NC_000014.8:g.23890217C>A
CLNSRC
CLNACC RCV000035846.3, RCV000201875.1,