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rs1060502047

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1060502047(A;C)
Make rs1060502047(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position166198763
GeneLOC101929680, SCN9A
is asnp
is mentioned by
dbSNPrs1060502047
dbSNP (classic)rs1060502047
ClinGenrs1060502047
ebirs1060502047
HLIrs1060502047
Exacrs1060502047
Gnomadrs1060502047
Varsomers1060502047
LitVarrs1060502047
Maprs1060502047
PheGenIrs1060502047
Biobankrs1060502047
1000 genomesrs1060502047
hgdprs1060502047
ensemblrs1060502047
geneviewrs1060502047
scholarrs1060502047
googlers1060502047
pharmgkbrs1060502047
gwascentralrs1060502047
openSNPrs1060502047
23andMers1060502047
SNPshotrs1060502047
SNPdbers1060502047
MSV3drs1060502047
GWAS Ctlgrs1060502047
Max Magnitude0
ClinVar
Risk rs1060502047(C;C)
Alt rs1060502047(C;C)
Reference Rs1060502047(A;A)
Significance Probable-Pathogenic
Disease Hereditary sensory and autonomic neuropathy type IIA
Variation info
Gene LOC101929680 SCN9A
CLNDBN Hereditary sensory and autonomic neuropathy type IIA
Reversed 1
HGVS NC_000002.11:g.167055273T>G
CLNSRC
CLNACC RCV000467475.1,