{{Rsnum
|rsid=1805124
|Gene=SCN5A
|Chromosome=3
|position=38603929
|Orientation=minus
|GMAF=0.2057
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=SCN5A
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 65.2 | 33.9 | 0.9
| HCB | 77.2 | 22.8 | 0.0
| JPT | 75.0 | 24.1 | 0.9
| YRI | 44.5 | 47.3 | 8.2
| ASW | 54.4 | 38.6 | 7.0
| CHB | 77.2 | 22.8 | 0.0
| CHD | 85.3 | 14.7 | 0.0
| GIH | 63.4 | 34.7 | 2.0
| LWK | 49.1 | 39.1 | 11.8
| MEX | 75.4 | 22.8 | 1.8
| MKK | 43.9 | 44.5 | 11.6
| TSI | 57.8 | 36.3 | 5.9
| HapMapRevision=28
}}

{{omim
|id=600163
|desc=SODIUM CHANNEL, VOLTAGE-GATED, TYPE V, ALPHA SUBUNIT; SCN5A
|rsnum=1805124
}}

{{PharmGKB
|RSID=rs1805124
|Name_s=SCN5A:H558R
|Gene_s=SCN5A
|Feature=Exon/NonSyn
|Evidence=Web Resource:http://www.pharmgkb.org/search/annotatedGene/scn5a/variant.jsp
|Annotation=Has been studied in association with long QT.
|Drugs=
|Drug Classes=
|Diseases=Long QT Syndrome
|Curation Level=In-Depth
|PharmGKB Accession ID=PA161145161
}}

{{omim
|id=600163
|rsnum=1805124
|variant=0031
}}

{{ClinVar
|rsid=1805124
|Reversed=1
|FwdREF=A
|FwdALT=G
|REF=T
|ALT=C
|RSPOS=38645420
|CHROM=3
|GMAF=0.206
|dbSNPBuildID=89
|SSR=0
|SAO=1
|VP=0x050178000000170517110101
|GENEINFO=SCN5A:6331
|GENE_NAME=SCN5A
|GENE_ID=6331
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000003.11:g.38645420T>C
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=600163.0031
|CLNSIG=5
|CLNCUI=C1879286
|CLNDBN=Progressive familial heart block type 1A; AllHighlyPenetrant; not provided
|Disease=Progressive familial heart block type 1A; AllHighlyPenetrant; not provided
|CLNACC=RCV000010000.1; RCV000041604.1; RCV000058440.1
|Tags=RV;PM;TPA;PMC;SLO;VLD;G5A;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.7943; 0.2057
|CLNDSDB=MedGen:OMIM:Orphanet; MedGen
|CLNDSDBID=C1879286:113900:871; CN169374
|COMMON=1
}}

{{PMID Auto
|PMID=17534376
|Title=Confirmation of associations between ion channel gene SNPs and QTc interval duration in healthy subjects.
|OA=1
}}

{{PMID Auto
|PMID=18368697
|Title=SCN5A variants in Japanese patients with left ventricular noncompaction and arrhythmia.
}}

{{PMID Auto
|PMID=18674739
|Title=Effect of common KCNE1 and SCN5A ion channel gene variants on T-wave alternans, a marker of cardiac repolarization, during clinical exercise stress test: the Finnish Cardiovascular Study.
}}

{{PMID Auto
|PMID=19019189
|Title=Common candidate gene variants are associated with QT interval duration in the general population.
|OA=1
}}

{{PMID Auto
|PMID=20062060
|Title=Genome-wide association study of PR interval.
|OA=1
}}

{{PMID Auto
|PMID=14760
|Title=Prazosin, a selective antagonist of post-synaptic alpha-adrenoceptors [proceedings].
|OA=1
}}

{{PMID Auto
|PMID=10807545
|Title=Twenty single nucleotide polymorphisms (SNPs) and their allelic frequencies in four genes that are responsible for familial long QT syndrome in the Japanese population.
}}

{{PMID Auto
|PMID=11463728
|Title=Homozygous SCN5A mutation in long-QT syndrome with functional two-to-one atrioventricular block.
}}

{{PMID Auto
|PMID=11997281
|Title=Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes.
}}

{{PMID Auto
|PMID=12569159
|Title=A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation.
|OA=1
}}

{{PMID Auto
|PMID=12639704
|Title=Nucleotide changes in the translated region of SCN5A from Japanese patients with Brugada syndrome and control subjects.
}}

{{GET Evidence
|gene=SCN5A
|aa_change=His558Arg
|aa_change_short=H558R
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1805124
|overall_frequency_n=2542
|overall_frequency_d=10350
|overall_frequency=0.245604
|n_genomes=21
|n_genomes_annotated=0
|n_haplomes=23
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|in_pharmgkb=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=1
|autoscore=4
|webscore=N
|n_web_uneval=10
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}