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rs786204951

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs786204951(A;G)
Make rs786204951(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position236753990
GeneACTN2
is asnp
is mentioned by
dbSNPrs786204951
ebirs786204951
HLIrs786204951
Exacrs786204951
Varsomers786204951
Maprs786204951
PheGenIrs786204951
hapmaprs786204951
1000 genomesrs786204951
hgdprs786204951
ensemblrs786204951
gopubmedrs786204951
geneviewrs786204951
scholarrs786204951
googlers786204951
pharmgkbrs786204951
gwascentralrs786204951
openSNPrs786204951
23andMers786204951
23andMe allrs786204951
SNP Nexus

SNPshotrs786204951
SNPdbers786204951
MSV3drs786204951
GWAS Ctlgrs786204951
Max Magnitude0
ClinVar
Risk rs786204951(G;G)
Alt rs786204951(G;G)
Reference rs786204951(A;A)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 23
Variation info
Gene ACTN2
CLNDBN Familial hypertrophic cardiomyopathy 23
Reversed 0
HGVS NC_000001.10:g.236917290A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000169903.5,