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rs73969684

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Possible pain-related mutation, but, may be benign
Make rs73969684(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position166305834
GeneSCN9A
is asnp
is mentioned by
dbSNPrs73969684
ClinGenrs73969684
ebirs73969684
HLIrs73969684
Exacrs73969684
Varsomers73969684
Maprs73969684
PheGenIrs73969684
hapmaprs73969684
1000 genomesrs73969684
hgdprs73969684
ensemblrs73969684
gopubmedrs73969684
geneviewrs73969684
scholarrs73969684
googlers73969684
pharmgkbrs73969684
gwascentralrs73969684
openSNPrs73969684
23andMers73969684
23andMe allrs73969684
SNP Nexus

SNPshotrs73969684
SNPdbers73969684
MSV3drs73969684
GWAS Ctlgrs73969684
Max Magnitude3

rs73969684, also known as c.554G>A, p.Arg185His and R185H, represents a rare variant in the SCN9A gene on chromosome 2. The minor allele is found at a frequency of around 0.003 (~1 in 300).

The significance of the minor allele is unclear. Mutations in the SCN9A gene are known to cause small fiber neuropathy and paroxysmal extreme pain disorder (often associated with yawning), but this particular mutation, rs73969684(T) - as indicated in dbSNP orientation - is reported as likely to be benign by one submitter to ClinVar. However, three publications describe several patients, most of whom are children, with this mutation and pain-related disorders.[PMID 21698661],[PMID 22826602OA-icon.png],[PMID 24817410]


ClinVar
Risk rs73969684(G;G) rs73969684(T;T)
Alt rs73969684(G;G) rs73969684(T;T)
Reference Rs73969684(C;C)
Significance Other
Disease Small fiber neuropathy Paroxysmal extreme pain disorder not specified Generalized epilepsy with febrile seizures plus Severe myoclonic epilepsy in infancy Congenital Indifference to Pain Inherited Erythromelalgia Familial Febrile Seizures not provided Generalized epilepsy with febrile seizures plus Hereditary sensory and autonomic neuropathy type IIA
Variation info
Gene SCN9A
CLNDBN Small fiber neuropathy Paroxysmal extreme pain disorder not specified Generalized epilepsy with febrile seizures plus Severe myoclonic epilepsy in infancy Congenital Indifference to Pain Inherited Erythromelalgia Familial Febrile Seizures not provided Generalized epilepsy with febrile seizures plus, type 7 Hereditary sensory and autonomic neuropathy type IIA
Reversed 0
HGVS NC_000002.11:g.167162344C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000144930.5, RCV000144931.5, RCV000178871.2, RCV000289874.1, RCV000325385.1, RCV000331310.1, RCV000382273.1, RCV000387916.1, RCV000421273.1, RCV000459981.1,