{{Rsnum
|rsid=5742912
|Gene=SCNN1A
|Chromosome=12
|position=6349184
|Orientation=minus
|GMAF=0.01194
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=SCNN1A
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 0.0 | 4.4 | 95.6
| HCB | 0.0 | 0.0 | 100.0
| JPT | 0.0 | 0.0 | 100.0
| YRI | 0.0 | 0.0 | 100.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 0.0 | 0.0 | 100.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 2.0 | 98.0
| LWK | 0.0 | 0.9 | 99.1
| MEX | 0.0 | 6.9 | 93.1
| MKK | 0.0 | 3.8 | 96.2
| TSI | 0.0 | 2.0 | 98.0
| HapMapRevision=28
}}
{{PMID Auto
|PMID=19619703
|Title=Association of genetic variants with the metabolic syndrome in 20,806 white women: The women's health genome study
|OA=1
}}

{{omim
|id=600228
|rsnum=5742912
|variant=0007
}}

{{ClinVar
|rsid=5742912
|Reversed=1
|FwdREF=T
|FwdALT=C
|REF=A
|ALT=G
|RSPOS=6458350
|CHROM=12
|GMAF=0.0119
|dbSNPBuildID=114
|SSR=0
|SAO=1
|VP=0x050268000000150517110100
|GENEINFO=SCNN1A:6337
|GENE_NAME=SCNN1A
|GENE_ID=6337
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000012.11:g.6458350A>G
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=600228.0007
|CLNSIG=5
|CLNCUI=CN035657
|CLNDBN=Bronchiectasis with or without elevated sweat chloride 2
|Disease=Bronchiectasis with or without elevated sweat chloride 2
|CLNACC=RCV000009851.1
|Tags=RV;PM;PMC;S3D;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.9881; 0.01194
|CLNDSDB=MedGen:OMIM
|CLNDSDBID=C2751666:613021
|COMMON=1
}}

{{PMID|18513389|OA=1
}} New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background.

{{PMID|19131662|OA=1
}} A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.

{{PMID|19330901|OA=1
}} Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study.

{{PMID|19559392|OA=1
}} A candidate gene association study of 77 polymorphisms in migraine.

{{GET Evidence
|gene=SCNN1A
|aa_change=Trp493Arg
|aa_change_short=W493R
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs5742912
|overall_frequency_n=1
|overall_frequency_d=128
|overall_frequency=0.0078125
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.955
|genetests_testable=Y
|nblosum100=7
|autoscore=5
|webscore=N
|n_web_uneval=10
}}

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