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

rs727504323

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727504323(C;G)
Make rs727504323(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position34792105
GeneACTC1, LOC101928174
is asnp
is mentioned by
dbSNPrs727504323
dbSNP (classic)rs727504323
ClinGenrs727504323
ebirs727504323
HLIrs727504323
Exacrs727504323
Gnomadrs727504323
Varsomers727504323
LitVarrs727504323
Maprs727504323
PheGenIrs727504323
Biobankrs727504323
1000 genomesrs727504323
hgdprs727504323
ensemblrs727504323
geneviewrs727504323
scholarrs727504323
googlers727504323
pharmgkbrs727504323
gwascentralrs727504323
openSNPrs727504323
23andMers727504323
SNPshotrs727504323
SNPdbers727504323
MSV3drs727504323
GWAS Ctlgrs727504323
Max Magnitude0
ClinVar
Risk rs727504323(G;G)
Alt rs727504323(G;G)
Reference Rs727504323(C;C)
Significance Probable-Pathogenic
Disease Primary familial hypertrophic cardiomyopathy Cardiovascular phenotype
Variation info
Gene ACTC1 LOC101928174 RP11-814P5.1
CLNDBN Primary familial hypertrophic cardiomyopathy Cardiovascular phenotype
Reversed 1
HGVS NC_000015.9:g.35084306G>C
CLNSRC
CLNACC RCV000154413.2, RCV000252698.1,