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rs193922635

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922635(C;T)
Make rs193922635(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position236755191
GeneACTN2
is asnp
is mentioned by
dbSNPrs193922635
ebirs193922635
HLIrs193922635
Exacrs193922635
Varsomers193922635
Maprs193922635
PheGenIrs193922635
hapmaprs193922635
1000 genomesrs193922635
hgdprs193922635
ensemblrs193922635
gopubmedrs193922635
geneviewrs193922635
scholarrs193922635
googlers193922635
pharmgkbrs193922635
gwascentralrs193922635
openSNPrs193922635
23andMers193922635
23andMe allrs193922635
SNP Nexus

SNPshotrs193922635
SNPdbers193922635
MSV3drs193922635
GWAS Ctlgrs193922635
Max Magnitude0
ClinVar
Risk rs193922635(G,T;G,T)
Alt rs193922635(G,T;G,T)
Reference rs193922635(C;C)
Significance Other
Disease Cardiomyopathy not specified Familial hypertrophic cardiomyopathy 1 Dilated cardiomyopathy 1AA Primary familial hypertrophic cardiomyopathy
Variation info
Gene ACTN2
CLNDBN Cardiomyopathy not specified Familial hypertrophic cardiomyopathy 1 Dilated cardiomyopathy 1AA Primary familial hypertrophic cardiomyopathy
Reversed 0
HGVS NC_000001.10:g.236918491C>T
CLNSRC Centenary Institute
CLNACC RCV000029298.3, RCV000036896.2, RCV000172894.1, RCV000228927.1,