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rs786205430

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786205430(-;-)
Make rs786205430(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position110911152
GeneMYL2
is asnp
is mentioned by
dbSNPrs786205430
ebirs786205430
HLIrs786205430
Exacrs786205430
Varsomers786205430
Maprs786205430
PheGenIrs786205430
hapmaprs786205430
1000 genomesrs786205430
hgdprs786205430
ensemblrs786205430
gopubmedrs786205430
geneviewrs786205430
scholarrs786205430
googlers786205430
pharmgkbrs786205430
gwascentralrs786205430
openSNPrs786205430
23andMers786205430
23andMe allrs786205430
SNP Nexus

SNPshotrs786205430
SNPdbers786205430
MSV3drs786205430
GWAS Ctlgrs786205430
Max Magnitude0
ClinVar
Risk rs786205430(;)
Alt rs786205430(;)
Reference rs786205430(C;C)
Significance Probable-Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYL2
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000012.11:g.111348956delG
CLNSRC
CLNACC RCV000171842.1,