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rs794728917

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CCCATCGCTGTG;CCCATCGCTGTG) 0 common in clinvar
Make rs794728917(CCCATCGCTGTG;TCTGACTGTGT)
Make rs794728917(TCTGACTGTGT;TCTGACTGTGT)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position38581006
GeneSCN5A
is asnp
is mentioned by
dbSNPrs794728917
dbSNP (old)rs794728917
ClinGenrs794728917
ebirs794728917
HLIrs794728917
Exacrs794728917
Gnomadrs794728917
Varsomers794728917
Maprs794728917
PheGenIrs794728917
Biobankrs794728917
1000 genomesrs794728917
hgdprs794728917
ensemblrs794728917
gopubmedrs794728917
geneviewrs794728917
scholarrs794728917
googlers794728917
pharmgkbrs794728917
gwascentralrs794728917
openSNPrs794728917
23andMers794728917
23andMe allrs794728917
SNP Nexus

SNPshotrs794728917
SNPdbers794728917
MSV3drs794728917
GWAS Ctlgrs794728917
Max Magnitude0
ClinVar
Risk rs794728917(TCTGACTGTGT;TCTGACTGTGT)
Alt rs794728917(TCTGACTGTGT;TCTGACTGTGT)
Reference Rs794728917(CCCATCGCTGTG;CCCATCGCTGTG)
Significance Pathogenic
Disease not provided
Variation info
Gene SCN5A
CLNDBN not provided
Reversed 1
HGVS NC_000003.11:g.38622497_38622508delCACAGCGATGGGinsACACAGTCAGA
CLNSRC
CLNACC RCV000183158.2,