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rs767734253

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs767734253(C;C)
Make rs767734253(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position34793418
GeneACTC1, LOC101928174
is asnp
is mentioned by
dbSNPrs767734253
dbSNP (classic)rs767734253
ClinGenrs767734253
ebirs767734253
HLIrs767734253
Exacrs767734253
Gnomadrs767734253
Varsomers767734253
LitVarrs767734253
Maprs767734253
PheGenIrs767734253
Biobankrs767734253
1000 genomesrs767734253
hgdprs767734253
ensemblrs767734253
geneviewrs767734253
scholarrs767734253
googlers767734253
pharmgkbrs767734253
gwascentralrs767734253
openSNPrs767734253
23andMers767734253
SNPshotrs767734253
SNPdbers767734253
MSV3drs767734253
GWAS Ctlgrs767734253
Max Magnitude0
ClinVar
Risk rs767734253(C;C)
Alt rs767734253(C;C)
Reference Rs767734253(T;T)
Significance Probable-Pathogenic
Disease Familial hypertrophic cardiomyopathy 11
Variation info
Gene ACTC1 LOC101928174 RP11-814P5.1
CLNDBN Familial hypertrophic cardiomyopathy 11
Reversed 0
HGVS NC_000015.9:g.35085619T>C
CLNSRC
CLNACC RCV000201495.1,