{{Rsnum
|rsid=2228576
|Gene=SCNN1A
|Chromosome=12
|position=6347896
|Orientation=minus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.281
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=SCNN1A
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 6.2 | 38.5 | 55.4
| HCB | 13.3 | 64.4 | 22.2
| JPT | 17.8 | 26.7 | 55.6
| YRI | 0.0 | 3.2 | 96.8
| ASW | 0.0 | 0.0 | 0.0
| CHB | 13.3 | 64.4 | 22.2
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 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
}}{{Venter SNP
|rsid=2228576
|allele=C
|frequency=0.263
|uid=1103649356292
|type=heterozygous_SNP
|hugo=SCNN1A
|ensembl gene=ENSG00000111319
|ensembl transcript=ENST00000228916
|sift=TOLERATED
|disease=Defects in SCNN1A are a cause of autosomal recessive pseudohypoaldosteronism type 1 (PHA1) (MIM:264350). PHA1 is a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. There are 2 forms of PHA1: the autosomal recessive form that is severe, and the dominant form which is more milder and due to defects in mineralocorticoid receptor. Autosomal recessive PHA1 is characterized by an often fulminant presentation in the neonatal period with dehydration, hyponatraemia, hyperkalaemia, metabolic acidosis, failure to thrive and weight loss.
}}

{{PMID Auto
|PMID=20577119
|Title=Pharmacogenetic association of hypertension candidate genes with fasting glucose in the GenHAT Study
|OA=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|19263529|OA=1
}} Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach.

{{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=Thr722Ala
|aa_change_short=T722A
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2228576
|overall_frequency_n=7881
|overall_frequency_d=10250
|overall_frequency=0.768878
|n_genomes=3
|n_genomes_annotated=0
|n_haplomes=2
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=1
|autoscore=1
|webscore=N
}}

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