Have questions? Visit https://www.reddit.com/r/SNPedia

rs200248944

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs200248944(C;T)
Make rs200248944(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position236747744
GeneACTN2
is asnp
is mentioned by
dbSNPrs200248944
ebirs200248944
HLIrs200248944
Exacrs200248944
Varsomers200248944
Maprs200248944
PheGenIrs200248944
hapmaprs200248944
1000 genomesrs200248944
hgdprs200248944
ensemblrs200248944
gopubmedrs200248944
geneviewrs200248944
scholarrs200248944
googlers200248944
pharmgkbrs200248944
gwascentralrs200248944
openSNPrs200248944
23andMers200248944
23andMe allrs200248944
SNP Nexus

SNPshotrs200248944
SNPdbers200248944
MSV3drs200248944
GWAS Ctlgrs200248944
Max Magnitude0
ClinVar
Risk rs200248944(T;T)
Alt rs200248944(T;T)
Reference rs200248944(C;C)
Significance Pathogenic
Disease not specified Familial hypertrophic cardiomyopathy 23 Primary familial hypertrophic cardiomyopathy
Variation info
Gene ACTN2
CLNDBN not specified Familial hypertrophic cardiomyopathy 23 Primary familial hypertrophic cardiomyopathy
Reversed 0
HGVS NC_000001.10:g.236911044C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000036880.3, RCV000169901.4, RCV000171827.1,