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rs12478318

From SNPedia

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


Make rs12478318(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position166277030
GeneLOC101929680, SCN9A
is asnp
is mentioned by
dbSNPrs12478318
dbSNP (classic)rs12478318
biobankenginers12478318
ClinGenrs12478318
ebirs12478318
HLIrs12478318
Exacrs12478318
Gnomadrs12478318
Varsomers12478318
LitVarrs12478318
Maprs12478318
PheGenIrs12478318
Biobankrs12478318
1000 genomesrs12478318
hgdprs12478318
ensemblrs12478318
geneviewrs12478318
scholarrs12478318
googlers12478318
pharmgkbrs12478318
gwascentralrs12478318
openSNPrs12478318
23andMers12478318
23andMe allrs12478318
SNPshotrs12478318
SNPdbers12478318
MSV3drs12478318
GWAS Ctlgrs12478318
Max Magnitude3

aka c.2794A>C (p.Met932Leu or M932L); however, in older literature, it is called c.2796A>C (although still M932L) 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 rs4369876. 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.

? (G;G) (G;T) (T;T) 28
ClinVar
Risk rs12478318(G;G)
Alt rs12478318(G;G)
Reference Rs12478318(T;T)
Significance Other
Disease Small fiber neuropathy not specified Congenital Indifference to Pain Generalized epilepsy with febrile seizures plus Hereditary sensory and autonomic neuropathy type IIA
Variation info
Gene LOC101929680 SCN9A
CLNDBN Small fiber neuropathy not specified Congenital Indifference to Pain Generalized epilepsy with febrile seizures plus, type 7 Hereditary sensory and autonomic neuropathy type IIA
Reversed 0
HGVS NC_000002.11:g.167133540T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000023304.3, RCV000080038.8, RCV000399125.1, RCV000461431.1,