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rs1060499940

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(ACT;ACT) 0 common in clinvar
Make rs1060499940(-;-)
Make rs1060499940(-;ACT)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position38597805
GeneSCN5A
is asnp
is mentioned by
dbSNPrs1060499940
dbSNP (old)rs1060499940
ClinGenrs1060499940
ebirs1060499940
HLIrs1060499940
Exacrs1060499940
Gnomadrs1060499940
Varsomers1060499940
Maprs1060499940
PheGenIrs1060499940
Biobankrs1060499940
1000 genomesrs1060499940
hgdprs1060499940
ensemblrs1060499940
gopubmedrs1060499940
geneviewrs1060499940
scholarrs1060499940
googlers1060499940
pharmgkbrs1060499940
gwascentralrs1060499940
openSNPrs1060499940
23andMers1060499940
23andMe allrs1060499940
SNPshotrs1060499940
SNPdbers1060499940
MSV3drs1060499940
GWAS Ctlgrs1060499940
Max Magnitude0
ClinVar
Risk rs1060499940(-;-)
Alt rs1060499940(-;-)
Reference Rs1060499940(ACT;ACT)
Significance Pathogenic
Disease Arrhythmogenic right ventricular dysplasia/cardiomyopathy
Variation info
Gene SCN5A
CLNDBN Arrhythmogenic right ventricular dysplasia/cardiomyopathy
Reversed 1
HGVS NC_000003.11:g.38639296_38639298delAGT
CLNSRC
CLNACC RCV000458183.1,