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rs786204949

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786204949(G;T)
Make rs786204949(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position236718984
GeneACTN2
is asnp
is mentioned by
dbSNPrs786204949
ebirs786204949
HLIrs786204949
Exacrs786204949
Varsomers786204949
Maprs786204949
PheGenIrs786204949
hapmaprs786204949
1000 genomesrs786204949
hgdprs786204949
ensemblrs786204949
gopubmedrs786204949
geneviewrs786204949
scholarrs786204949
googlers786204949
pharmgkbrs786204949
gwascentralrs786204949
openSNPrs786204949
23andMers786204949
23andMe allrs786204949
SNP Nexus

SNPshotrs786204949
SNPdbers786204949
MSV3drs786204949
GWAS Ctlgrs786204949
Max Magnitude0
ClinVar
Risk rs786204949(T;T)
Alt rs786204949(T;T)
Reference rs786204949(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.236882284G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000169900.4,