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rs786204950

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786204950(C;C)
Make rs786204950(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position236757607
GeneACTN2
is asnp
is mentioned by
dbSNPrs786204950
ebirs786204950
HLIrs786204950
Exacrs786204950
Varsomers786204950
Maprs786204950
PheGenIrs786204950
hapmaprs786204950
1000 genomesrs786204950
hgdprs786204950
ensemblrs786204950
gopubmedrs786204950
geneviewrs786204950
scholarrs786204950
googlers786204950
pharmgkbrs786204950
gwascentralrs786204950
openSNPrs786204950
23andMers786204950
23andMe allrs786204950
SNP Nexus

SNPshotrs786204950
SNPdbers786204950
MSV3drs786204950
GWAS Ctlgrs786204950
Max Magnitude0
ClinVar
Risk rs786204950(C;C)
Alt rs786204950(C;C)
Reference rs786204950(G;G)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 23
Variation info
Gene ACTN2
CLNDBN Familial hypertrophic cardiomyopathy 23
Reversed 0
HGVS NC_000001.10:g.236920907G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000169902.4,