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rs143852164

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs143852164(A;A)
Make rs143852164(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position46859496
GeneMYL3
is asnp
is mentioned by
dbSNPrs143852164
dbSNP (classic)rs143852164
ClinGenrs143852164
ebirs143852164
HLIrs143852164
Exacrs143852164
Gnomadrs143852164
Varsomers143852164
LitVarrs143852164
Maprs143852164
PheGenIrs143852164
Biobankrs143852164
1000 genomesrs143852164
hgdprs143852164
ensemblrs143852164
geneviewrs143852164
scholarrs143852164
googlers143852164
pharmgkbrs143852164
gwascentralrs143852164
openSNPrs143852164
23andMers143852164
SNPshotrs143852164
SNPdbers143852164
MSV3drs143852164
GWAS Ctlgrs143852164
Max Magnitude0
ClinVar
Risk rs143852164(A;A)
Alt rs143852164(A;A)
Reference Rs143852164(G;G)
Significance Pathogenic
Disease not specified Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy
Variation info
Gene MYL3
CLNDBN not specified Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy
Reversed 0
HGVS NC_000003.11:g.46900986G>A
CLNSRC
CLNACC RCV000036024.3, RCV000148718.1, RCV000231173.2,