{{Rsnum
|rsid=5738
|Gene=SCNN1G
|Chromosome=16
|position=23189642
|Orientation=plus
|GMAF=0.003214
|Gene_s=SCNN1G
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.0 | 1.8 | 98.2
| HCB | 0.0 | 0.0 | 100.0
| JPT | 0.0 | 0.0 | 100.0
| YRI | 0.0 | 0.7 | 99.3
| ASW | 0.0 | 0.0 | 0.0
| CHB | 0.0 | 0.0 | 100.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 1.8 | 98.2
| MEX | 0.0 | 5.2 | 94.8
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 3.0 | 97.0
| HapMapRevision=28
}}{{omim
|id=600761
|variant=0006
|rsnum=5738
}}

{{ClinVar
|rsid=5738
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=23200963
|CHROM=16
|GMAF=0.0032
|dbSNPBuildID=52
|SSR=0
|SAO=1
|VP=0x050060000000050517110100
|GENEINFO=SCNN1G:6340
|GENE_NAME=SCNN1G
|GENE_ID=6340
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000016.9:g.23200963G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=600761.0006
|CLNSIG=5
|CLNCUI=CN035469
|CLNDBN=Bronchiectasis with or without elevated sweat chloride 3
|Disease=Bronchiectasis with or without elevated sweat chloride 3
|CLNACC=RCV000009377.1
|Tags=PM;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.9968; 0.003214
|CLNDSDB=MedGen:OMIM
|CLNDSDBID=C2751324:613071
|COMMON=1
}}

{{GET Evidence
|gene=SCNN1G
|aa_change=Glu197Lys
|aa_change_short=E197K
|impact=pathogenic
|qualified_impact=Low clinical importance, Uncertain pathogenic
|inheritance=dominant
|quality_scores=Array
|dbsnp_id=rs5738
|overall_frequency_n=69
|overall_frequency_d=10758
|overall_frequency=0.00641383
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=2
|n_articles_annotated=2
|qualityscore_in_silico=!
|qualitycomment_in_silico=Y
|qualityscore_in_vitro=!
|qualitycomment_in_vitro=Y
|qualityscore_case_control=3
|qualitycomment_case_control=Y
|qualityscore_familial=0
|qualitycomment_familial=Y
|qualityscore_severity=4
|qualitycomment_severity=Y
|qualityscore_treatability=1
|gene_in_genetests=Y
|in_omim=Y
|genetests_testable=Y
|nblosum100=0
|autoscore=4
|webscore=N
|variant_evidence=0
|clinical_importance=0
|summary_short=May cause slight increased risk of rare, CFTR-like disease.
}}

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