rs121908917

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

2

Position

166293354

Gene	LOC101929680, SCN9A

is a	snp
is	mentioned by
dbSNP	rs121908917
dbSNP (classic)	rs121908917
ClinGen	rs121908917
ebi	rs121908917
HLI	rs121908917
Exac	rs121908917
Gnomad	rs121908917
Varsome	rs121908917
LitVar	rs121908917
Map	rs121908917
PheGenI	rs121908917
Biobank	rs121908917
1000 genomes	rs121908917
hgdp	rs121908917
ensembl	rs121908917
geneview	rs121908917
scholar	rs121908917
google	rs121908917
pharmgkb	rs121908917
gwascentral	rs121908917
openSNP	rs121908917
23andMe	rs121908917
SNPshot	rs121908917
SNPdbe	rs121908917
MSV3d	rs121908917
GWAS Ctlg	rs121908917

Max Magnitude

4

rs121908917, also known as c.984C>A, p.Tyr328Ter and Y328X, 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	0015
Related	also

ClinVar
Risk	Rs121908917(A;A) rs121908917(T;T)
Alt	Rs121908917(A;A) rs121908917(T;T)
Reference	Rs121908917(C;C)
Significance	Pathogenic
Disease	Indifference to pain
Variation	info
Gene	LOC101929680 SCN9A
CLNDBN	Indifference to pain, congenital, autosomal recessive
Reversed	1
HGVS	NC_000002.11:g.167149864G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006735.3,