rs73969684

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Possible pain-related mutation, but, may be benign

Make rs73969684(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

166305834

Gene

SCN9A

is a	snp
is	mentioned by
dbSNP	rs73969684
dbSNP (classic)	rs73969684
ClinGen	rs73969684
ebi	rs73969684
HLI	rs73969684
Exac	rs73969684
Gnomad	rs73969684
Varsome	rs73969684
LitVar	rs73969684
Map	rs73969684
PheGenI	rs73969684
Biobank	rs73969684
1000 genomes	rs73969684
hgdp	rs73969684
ensembl	rs73969684
geneview	rs73969684
scholar	rs73969684
google	rs73969684
pharmgkb	rs73969684
gwascentral	rs73969684
openSNP	rs73969684
23andMe	rs73969684
SNPshot	rs73969684
SNPdbe	rs73969684
MSV3d	rs73969684
GWAS Ctlg	rs73969684

Max Magnitude

3

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 22826602],[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,