rs4369876

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;C)	3	Possibly somewhat more insensitive to pain (see discussion)
(C;C)	0	common in clinvar

Make rs4369876(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

166272746

Gene	LOC101929680, SCN9A

is a	snp
is	mentioned by
dbSNP	rs4369876
dbSNP (classic)	rs4369876
ClinGen	rs4369876
ebi	rs4369876
HLI	rs4369876
Exac	rs4369876
Gnomad	rs4369876
Varsome	rs4369876
LitVar	rs4369876
Map	rs4369876
PheGenI	rs4369876
Biobank	rs4369876
1000 genomes	rs4369876
hgdp	rs4369876
ensembl	rs4369876
geneview	rs4369876
scholar	rs4369876
google	rs4369876
pharmgkb	rs4369876
gwascentral	rs4369876
openSNP	rs4369876
23andMe	rs4369876
SNPshot	rs4369876
SNPdbe	rs4369876
MSV3d	rs4369876
GWAS Ctlg	rs4369876

Max Magnitude

3

aka c.2971G>T (p.Val991Leu or V991L); however, in older literature, it is called c.3312G>T, Val1104L and V110L because that was how it was named in one of the earliest publications describing it [PMID 21939494]

The variant allele for this SNP is apparently tightly linked to the variant allele for rs12478318. There are at least two publications in which the complex allele carrying both variants is reported to be associated with congenital insensitivity to pain (CIP) and/or lower post-operative pain following surgery.[PMID 21939494][PMID 23364568]

However, there is also a report of a patient carrying this complex allele who had a small fiber neuropathy and increased pain.[PMID 21698661] It is unclear how this can be reconciled with the reports of decreased pain associated with this complex allele.

?	(A;A) (A;C) (C;C)	28

ClinVar
Risk	rs4369876(A;A)
Alt	rs4369876(A;A)
Reference	Rs4369876(C;C)
Significance	Other
Disease	Small fiber neuropathy not specified Familial Febrile Seizures Paroxysmal extreme pain disorder Inherited Erythromelalgia Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus Congenital Indifference to Pain Generalized epilepsy with febrile seizures plus Hereditary sensory and autonomic neuropathy type IIA Primary erythromelalgia
Variation	info
Gene	LOC101929680 SCN9A
CLNDBN	Small fiber neuropathy not specified Familial Febrile Seizures Paroxysmal extreme pain disorder Inherited Erythromelalgia Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus Congenital Indifference to Pain Generalized epilepsy with febrile seizures plus, type 7 Hereditary sensory and autonomic neuropathy type IIA Primary erythromelalgia
Reversed	0
HGVS	NC_000002.11:g.167129256C>A
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000023304.3, RCV000080039.8, RCV000280007.1, RCV000284177.1, RCV000318755.1, RCV000341481.1, RCV000372211.1, RCV000375717.1, RCV000389941.1, RCV000469131.1, RCV000490436.1,