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rs727504379

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;T) 6.2 Familial Hypertrophic Cardiomyopathy
(T;T) 0 common in clinvar


Make rs727504379(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position34791238
GeneACTC1, LOC101928174
is asnp
is mentioned by
dbSNPrs727504379
dbSNP (classic)rs727504379
ClinGenrs727504379
ebirs727504379
HLIrs727504379
Exacrs727504379
Gnomadrs727504379
Varsomers727504379
LitVarrs727504379
Maprs727504379
PheGenIrs727504379
Biobankrs727504379
1000 genomesrs727504379
hgdprs727504379
ensemblrs727504379
geneviewrs727504379
scholarrs727504379
googlers727504379
pharmgkbrs727504379
gwascentralrs727504379
openSNPrs727504379
23andMers727504379
SNPshotrs727504379
SNPdbers727504379
MSV3drs727504379
GWAS Ctlgrs727504379
Max Magnitude6.2
ClinVar
Risk rs727504379(C;C)
Alt rs727504379(C;C)
Reference Rs727504379(T;T)
Significance Probable-Pathogenic
Disease Cardiomyopathy not provided
Variation info
Gene ACTC1 LOC101928174 RP11-814P5.1
CLNDBN Cardiomyopathy not provided
Reversed 1
HGVS NC_000015.9:g.35083439A>G
CLNSRC
CLNACC RCV000154537.1, RCV000157806.1,