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rs606231279

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs606231279(G;TT)
Make rs606231279(TT;TT)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position166228871
GeneLOC101929680, SCN9A
is asnp
is mentioned by
dbSNPrs606231279
ebirs606231279
HLIrs606231279
Exacrs606231279
Varsomers606231279
Maprs606231279
PheGenIrs606231279
hapmaprs606231279
1000 genomesrs606231279
hgdprs606231279
ensemblrs606231279
gopubmedrs606231279
geneviewrs606231279
scholarrs606231279
googlers606231279
pharmgkbrs606231279
gwascentralrs606231279
openSNPrs606231279
23andMers606231279
23andMe allrs606231279
SNP Nexus

SNPshotrs606231279
SNPdbers606231279
MSV3drs606231279
GWAS Ctlgrs606231279
Max Magnitude0
ClinVar
Risk rs606231279(TT;TT)
Alt rs606231279(TT;TT)
Reference rs606231279(G;G)
Significance Pathogenic
Disease NEUROPATHY Indifference to pain
Variation info
Gene LOC101929680 SCN9A
CLNDBN NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IID Indifference to pain, congenital, autosomal recessive
Reversed 1
HGVS NC_000002.11:g.167085381delCinsAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000144933.3, RCV000192063.1,