rs121908916

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	carrier of one allele for insensitivity to pain
(T;T)	4	Congenital insensitivity to pain

Reference

GRCh38 38.1/141

Chromosome

2

Position

166303162

Gene

SCN9A

is a	snp
is	mentioned by
dbSNP	rs121908916
dbSNP (classic)	rs121908916
ClinGen	rs121908916
ebi	rs121908916
HLI	rs121908916
Exac	rs121908916
Gnomad	rs121908916
Varsome	rs121908916
LitVar	rs121908916
Map	rs121908916
PheGenI	rs121908916
Biobank	rs121908916
1000 genomes	rs121908916
hgdp	rs121908916
ensembl	rs121908916
geneview	rs121908916
scholar	rs121908916
google	rs121908916
pharmgkb	rs121908916
gwascentral	rs121908916
openSNP	rs121908916
23andMe	rs121908916
SNPshot	rs121908916
SNPdbe	rs121908916
MSV3d	rs121908916
GWAS Ctlg	rs121908916

Max Magnitude

4

rs121908916, also known as c.829C>T, p.Arg277Ter and R277X, is a rare mutation in the SCN9A gene on chromosome 2.

Inherited in a recessive manner, the homozygous minor genotype for this SNP is reported to result in insensitivity to pain.

OMIM	603415
Desc
Variant	0014
Related	also

ClinVar
Risk	rs121908916(A;A) Rs121908916(T;T)
Alt	rs121908916(A;A) Rs121908916(T;T)
Reference	Rs121908916(C;C)
Significance	Pathogenic
Disease	Indifference to pain
Variation	info
Gene	SCN9A
CLNDBN	Indifference to pain, congenital, autosomal recessive
Reversed	1
HGVS	NC_000002.11:g.167159672G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006734.4,