{{Rsnum
|rsid=6746030
|Gene=SCN9A
|Chromosome=2
|position=166242648
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=T
|GMAF=0.1088
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=AC010127.3,SCN9A
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.9 | 22.1 | 77.0
| HCB | 0.0 | 10.9 | 89.1
| JPT | 0.0 | 8.8 | 91.2
| YRI | 1.4 | 25.3 | 73.3
| ASW | 0.0 | 26.3 | 73.7
| CHB | 0.0 | 10.9 | 89.1
| CHD | 0.0 | 7.3 | 92.7
| GIH | 4.0 | 28.7 | 67.3
| LWK | 0.9 | 12.7 | 86.4
| MEX | 0.0 | 15.5 | 84.5
| MKK | 0.0 | 20.5 | 79.5
| TSI | 2.0 | 23.5 | 74.5
| HapMapRevision=28
}}

[[rs6746030]] is a SNP in the sodium channel Nav1.7 [[SCN9A]] gene.

In five cohorts tested, totaling 1,277 individuals, the rarer [[rs6746030]](A) allele was associated with increased pain (p=0.0001).{{PMID|20212137|OA=1
}}

{{Venter SNP
|rsid=6746030
|allele=G
|frequency=0.875
|uid=1103658279081
|type=homozygous_SNP
|hugo=SCN9A
|ensembl gene=ENSG00000169432
|ensembl transcript=ENST00000303354
|sift=TOLERATED
|disease=Defects in SCN9A are the cause of primary erythermalgia (MIM:133020). It is an autosomal dominant disease characterized by recurrent episodes of severe pain associated with redness and warmth in the feet or hands.
}}

{{PMID Auto
|PMID=20033988
|Title=A sodium channel gene SCN9A polymorphism that increases nociceptor excitability
}}

{{PMID Auto
|PMID=22473870
|Title=Contribution of genetic variants to pain susceptibility in Parkinson disease
}}

{{PMID Auto
|PMID=21031562
|Title=Role of the Nav1.7 R1150W amino acid change in susceptibility to symptomatic knee osteoarthritis and multiple regional pain
}}

{{ClinVar
|rsid=6746030
|Reversed=0
|FwdREF=A
|FwdALT=G
|REF=A
|ALT=G
|RSPOS=167099158
|CHROM=2
|GMAF=0.109
|dbSNPBuildID=116
|SSR=0
|SAO=1
|VP=0x05016800000015051f100100
|WGT=0
|VC=SNV
|CLNALLE=0
|CLNHGVS=NC_000002.11:g.167099158A\x3d
|CLNORIGIN=0
|CLNSIG=2
|Tags=PM;PMC;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD
|CAF=0.1088; 0.8912
|CLNACC=RCV000020514.1
|CLNDBN=Primary erythromelalgia
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1163:C0014805:133020:306577:90026:403390002
|CLNSRC=GeneReviews
|CLNSRCID=NBK1163
|COMMON=1
|Disease=Primary erythromelalgia
|GENEINFO=SCN9A:6335
|GENE_ID=6335
|GENE_NAME=SCN9A
}}

{{PMID Auto
|PMID=15302875
|Title=Expression of alternatively spliced sodium channel alpha-subunit genes. Unique splicing patterns are observed in dorsal root ganglia.
}}

{{PMID Auto
|PMID=23006801
|Title=The non-synonymous SNP, R1150W, in SCN9A is not associated with chronic widespread pain susceptibility
|OA=1
}}

{{GET Evidence
|gene=SCN9A
|aa_change=Trp1150Arg
|aa_change_short=W1150R
|impact=benign
|qualified_impact=Insufficiently evaluated benign
|inheritance=dominant
|quality_scores=Array
|dbsnp_id=rs6746030
|overall_frequency_n=8347
|overall_frequency_d=9508
|overall_frequency=0.877892
|n_genomes=56
|n_genomes_annotated=0
|n_haplomes=97
|n_articles=2
|n_articles_annotated=2
|qualityscore_in_silico=3
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=7
|autoscore=3
|n_web_uneval=1
|summary_short=The Trp variant was initially reported causative in a sporadic case of primary erythermalgia, but it was later determined to be a benign polymorphism.
}}

{{PMID Auto
|PMID=23102778
|Title=Polymorphism in the SCN9A voltage-gated sodium channel gene associated with interstitial cystitis/bladder pain syndrome.
}}

{{PMID Auto
|PMID=23129781
|Title=Infrequent SCN9A mutations in congenital insensitivity to pain and erythromelalgia.
|OA=1
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | Affy500k}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | Illumina Human 1M}}