ClinVar
|
Risk
|
rs200945460(T;T) |
Alt
|
rs200945460(T;T) |
Reference
|
Rs200945460(A;A) |
Significance |
Other |
Disease |
Small fiber neuropathy not specified Primary erythromelalgia Severe myoclonic epilepsy in infancy Congenital Indifference to Pain Familial Febrile Seizures Generalized epilepsy with febrile seizures plus Inherited Erythromelalgia Paroxysmal extreme pain disorder Generalized epilepsy with febrile seizures plus Hereditary sensory and autonomic neuropathy type IIA |
Variation | info |
---|
Gene |
LOC101929680 SCN9A |
CLNDBN |
Small fiber neuropathy not specified Primary erythromelalgia Severe myoclonic epilepsy in infancy Congenital Indifference to Pain Familial Febrile Seizures Generalized epilepsy with febrile seizures plus Inherited Erythromelalgia Paroxysmal extreme pain disorder Generalized epilepsy with febrile seizures plus, type 7 Hereditary sensory and autonomic neuropathy type IIA |
Reversed |
0 |
HGVS |
NC_000002.11:g.167137018A>T |
CLNSRC |
OMIM Allelic Variant |
CLNACC |
RCV000023302.4, RCV000118297.2, RCV000191125.1, RCV000271886.1, RCV000311897.1, RCV000315062.1, RCV000366547.1, RCV000393618.1, RCV000393721.1, RCV000476046.1, |