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rs200945460

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs200945460(A;T)
Make rs200945460(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position166280508
GeneLOC101929680, SCN9A
is asnp
is mentioned by
dbSNPrs200945460
dbSNP (classic)rs200945460
ClinGenrs200945460
ebirs200945460
HLIrs200945460
Exacrs200945460
Gnomadrs200945460
Varsomers200945460
LitVarrs200945460
Maprs200945460
PheGenIrs200945460
Biobankrs200945460
1000 genomesrs200945460
hgdprs200945460
ensemblrs200945460
geneviewrs200945460
scholarrs200945460
googlers200945460
pharmgkbrs200945460
gwascentralrs200945460
openSNPrs200945460
23andMers200945460
SNPshotrs200945460
SNPdbers200945460
MSV3drs200945460
GWAS Ctlgrs200945460
Max Magnitude0
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,