{{Rsnum
|rsid=7626962
|Gene=SCN5A
|Chromosome=3
|position=38579416
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=A
|GMAF=0.01194
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene_s=SCN5A
}}{{ population diversity
| geno1=(G;G)
| geno2=(G;T)
| geno3=(T;T)
| CEU | 99.1 | 0.9 | 0.0
| HCB | 0.0 | 0.0 | 0.0
| JPT | 0.0 | 0.0 | 0.0
| YRI | 86.2 | 13.8 | 0.0
| ASW | 91.2 | 8.8 | 0.0
| CHB | 0.0 | 0.0 | 0.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 93.6 | 6.4 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}{{omim
|desc=LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO
|id=600163
|rsnum=7626962
|variant=0024
}}

{{PharmGKB
|RSID=rs7626962
|Name_s=SCN5A:S1103Y
|Gene_s=SCN5A
|Feature=
|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=PA161145163
}}

{{ClinVar
|rsid=7626962
|Reversed=0
|FwdREF=G
|FwdALT=T
|REF=G
|ALT=T
|RSPOS=38620907
|CHROM=3
|GMAF=0.0119
|dbSNPBuildID=116
|SSR=0
|SAO=1
|VP=0x05017800000015051f110100
|GENEINFO=SCN5A:6331
|GENE_NAME=SCN5A
|GENE_ID=6331
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000003.11:g.38620907G>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=600163.0024
|CLNSIG=255
|CLNCUI=C0038644
|CLNDBN=Long QT syndrome 3, acquired, susceptibility to; Sudden infant death syndrome; AllHighlyPenetrant; not provided
|Disease=Long QT syndrome 3; Sudden infant death syndrome; AllHighlyPenetrant; not provided
|CLNACC=RCV000009992.1; RCV000009993.1; RCV000041615.1; RCV000058563.1
|Tags=PM;TPA;PMC;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.9881; 0.01194
|CLNDSDB=MedGen; MedGen:OMIM:SNOMED_CT
|CLNDSDBID=C1838527; C0038644:272120:51178009; CN169374
|COMMON=1
}}

{{PMID Auto
|PMID=19214780
|Title=In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs).
|OA=1
}}

{{PMID Auto
|PMID=19530973
|Title=Genetic variation in the rhythmonome: ethnic variation and haplotype structure in candidate genes for arrhythmias.
|OA=1
}}

{{PMID Auto
|PMID=21347284
|Title=Genome-wide association studies of the PR interval in African Americans.
|OA=1
}}

{{PMID Auto
|PMID=12193783
|Title=Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia.
}}

{{PMID Auto
|PMID=15161528
|Title=Single nucleotide polymorphisms of the SCN5A gene in Han Chinese and their relation with Brugada syndrome.
}}

{{PMID Auto
|PMID=19841300
|Title=Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.
|OA=1
}}

{{GET Evidence
|gene=SCN5A
|aa_change=Ser1103Tyr
|aa_change_short=S1103Y
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=other
|quality_scores=Array
|dbsnp_id=rs7626962
|overall_frequency_n=2
|overall_frequency_d=128
|overall_frequency=0.015625
|n_genomes=3
|n_genomes_annotated=0
|n_haplomes=3
|n_articles=3
|n_articles_annotated=3
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|qualityscore_in_vitro=2
|qualitycomment_in_vitro=Y
|qualityscore_case_control=5
|qualitycomment_case_control=Y
|qualityscore_familial=2
|qualitycomment_familial=Y
|qualityscore_severity=1
|qualitycomment_severity=Y
|qualityscore_treatability=3
|qualitycomment_treatability=Y
|gene_in_genetests=Y
|in_omim=Y
|in_pharmgkb=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=5
|max_or_disease_name=SCN5A-Related Disorders
|max_or_case_pos=13
|max_or_case_neg=10
|max_or_control_pos=13
|max_or_control_neg=87
|max_or_or=8.700
|autoscore=5
|webscore=Y
|summary_short=This is a common variant in individuals of African descent (African American allele frequency 6.8%). It is associated with an increased risk of cardiac arrhythmia (odds ratio of 8.7 for both homozygous and heterozygous carriers) and of sudden infant death syndrome (24-fold increase for homozygous).
}}

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