RS4369876 SCN9A
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What This Variant Does
"CLNSIG=255
Associated Conditions
Paroxysmal extreme pain disorder
Channelopathy-associated congenital insensitivity to pain
autosomal recessive
Neuropathy
hereditary sensory and autonomic
type 2A
Generalized epilepsy with febrile seizures plus
type 7
Primary erythromelalgia
Paroxysmal extreme pain disorder
Channelopathy-associated congenital insensitivity to pain
autosomal recessive
Neuropathy
hereditary sensory and autonomic
type 2A
Population Frequencies
gnomAD ALL
99.1%
1kG AFR
0.3%
1kG ALL
3.3%
1kG AMR
87.3%
1kG EAS
93.9%
1kG EUR
100%
1kG SAS
98.7%
Other Variants in SCN9A