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rs4369876

From SNPedia

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


Make rs4369876(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position166272746
GeneLOC101929680, SCN9A
is asnp
is mentioned by
dbSNPrs4369876
dbSNP (classic)rs4369876
ClinGenrs4369876
ebirs4369876
HLIrs4369876
Exacrs4369876
Gnomadrs4369876
Varsomers4369876
LitVarrs4369876
Maprs4369876
PheGenIrs4369876
Biobankrs4369876
1000 genomesrs4369876
hgdprs4369876
ensemblrs4369876
geneviewrs4369876
scholarrs4369876
googlers4369876
pharmgkbrs4369876
gwascentralrs4369876
openSNPrs4369876
23andMers4369876
23andMe allrs4369876
SNPshotrs4369876
SNPdbers4369876
MSV3drs4369876
GWAS Ctlgrs4369876
Max Magnitude3

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 21939494OA-icon.png]

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 21939494OA-icon.png][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,