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rs41268673

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs41268673(G;T)
Make rs41268673(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position166284599
GeneSCN9A
is asnp
is mentioned by
dbSNPrs41268673
ebirs41268673
HLIrs41268673
Exacrs41268673
Varsomers41268673
Maprs41268673
PheGenIrs41268673
hapmaprs41268673
1000 genomesrs41268673
hgdprs41268673
ensemblrs41268673
gopubmedrs41268673
geneviewrs41268673
scholarrs41268673
googlers41268673
pharmgkbrs41268673
gwascentralrs41268673
openSNPrs41268673
23andMers41268673
23andMe allrs41268673
SNP Nexus

SNPshotrs41268673
SNPdbers41268673
MSV3drs41268673
GWAS Ctlgrs41268673
GMAF0.01561
Max Magnitude0
ClinVar
Risk rs41268673(T;T)
Alt rs41268673(T;T)
Reference rs41268673(G;G)
Significance Other
Disease Primary erythromelalgia not specified not provided
Variation info
Gene LOC101929680 SCN9A
CLNDBN Primary erythromelalgia not specified not provided
Reversed 0
HGVS NC_000002.11:g.167141109G>T
CLNSRC HGMD
CLNACC RCV000020511.3, RCV000118296.7, RCV000128006.1,



[PMID 15955112] SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels.


GET Evidence
SCN9A-P610T
aa_change Pro610Thr
aa_change_short P610T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0197591
summary



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