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rs1060499941

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060499941(A;A)
Make rs1060499941(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position38550324
GeneSCN5A
is asnp
is mentioned by
dbSNPrs1060499941
dbSNP (classic)rs1060499941
ClinGenrs1060499941
ebirs1060499941
HLIrs1060499941
Exacrs1060499941
Gnomadrs1060499941
Varsomers1060499941
LitVarrs1060499941
Maprs1060499941
PheGenIrs1060499941
Biobankrs1060499941
1000 genomesrs1060499941
hgdprs1060499941
ensemblrs1060499941
geneviewrs1060499941
scholarrs1060499941
googlers1060499941
pharmgkbrs1060499941
gwascentralrs1060499941
openSNPrs1060499941
23andMers1060499941
SNPshotrs1060499941
SNPdbers1060499941
MSV3drs1060499941
GWAS Ctlgrs1060499941
Max Magnitude0
ClinVar
Risk rs1060499941(A;A)
Alt rs1060499941(A;A)
Reference Rs1060499941(G;G)
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.38591815C>T
CLNSRC
CLNACC RCV000459276.1,