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rs6746030

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 1 Increased perception of pain
(A;G) 1 reported to influence perception of pain
(G;G) 0 Normal perception of pain
ReferenceGRCh38 38.1/141
Chromosome2
Position166242648
GeneAC010127.3, SCN9A
is asnp
is mentioned by
dbSNPrs6746030
ebirs6746030
HLIrs6746030
Exacrs6746030
Varsomers6746030
Maprs6746030
PheGenIrs6746030
hapmaprs6746030
1000 genomesrs6746030
hgdprs6746030
ensemblrs6746030
gopubmedrs6746030
geneviewrs6746030
scholarrs6746030
googlers6746030
pharmgkbrs6746030
gwascentralrs6746030
openSNPrs6746030
23andMers6746030
23andMe allrs6746030
SNP Nexus

SNPshotrs6746030
SNPdbers6746030
MSV3drs6746030
GWAS Ctlgrs6746030
GMAF0.1088
Max Magnitude1
? (A;A) (A;G) (G;G) 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 20212137OA-icon.png]


Venter snp
Source plos
Gene SCN9A
allele G
frequency 0.875
sift TOLERATED
HuRef 1103658279081
Disease Association 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 20033988] A sodium channel gene SCN9A polymorphism that increases nociceptor excitability


[PMID 22473870] Contribution of genetic variants to pain susceptibility in Parkinson disease


[PMID 21031562] Role of the Nav1.7 R1150W amino acid change in susceptibility to symptomatic knee osteoarthritis and multiple regional pain


ClinVar
Risk rs6746030(G;G)
Alt rs6746030(G;G)
Reference rs6746030(A;A)
Significance Non-pathogenic
Disease Primary erythromelalgia
Variation info
Gene LOC101929680 SCN9A
CLNDBN Primary erythromelalgia
Reversed 0
HGVS NC_000002.11:g.167099158A\x3d
CLNSRC ClinVar GeneReviews
CLNACC RCV000020514.1,



[PMID 15302875] Expression of alternatively spliced sodium channel alpha-subunit genes. Unique splicing patterns are observed in dorsal root ganglia.


[PMID 23006801OA-icon.png] The non-synonymous SNP, R1150W, in SCN9A is not associated with chronic widespread pain susceptibility


GET Evidence
SCN9A-W1150R
aa_change Trp1150Arg
aa_change_short W1150R
impact benign
qualified_impact Insufficiently evaluated benign
overall_frequency 0.877892
summary 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 23102778] Polymorphism in the SCN9A voltage-gated sodium channel gene associated with interstitial cystitis/bladder pain syndrome.


[PMID 23129781OA-icon.png] Infrequent SCN9A mutations in congenital insensitivity to pain and erythromelalgia.


[PMID 26752484] Genotypic Analysis of SCN9A for Prediction of Postoperative Pain in Female Patients Undergoing Gynecological Laparoscopic Surgery.