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rs142173735

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs142173735(A;A)
Make rs142173735(A;C)
ReferenceGRCh38 38.1/142
Chromosome3
Position38712340
GeneSCN10A
is asnp
is mentioned by
dbSNPrs142173735
dbSNP (classic)rs142173735
ClinGenrs142173735
ebirs142173735
HLIrs142173735
Exacrs142173735
Gnomadrs142173735
Varsomers142173735
LitVarrs142173735
Maprs142173735
PheGenIrs142173735
Biobankrs142173735
1000 genomesrs142173735
hgdprs142173735
ensemblrs142173735
geneviewrs142173735
scholarrs142173735
googlers142173735
pharmgkbrs142173735
gwascentralrs142173735
openSNPrs142173735
23andMers142173735
SNPshotrs142173735
SNPdbers142173735
MSV3drs142173735
GWAS Ctlgrs142173735
Max Magnitude0
ClinVar
Risk rs142173735(A;A) rs142173735(T;T)
Alt rs142173735(A;A) rs142173735(T;T)
Reference Rs142173735(C;C)
Significance Pathogenic
Disease Episodic pain syndrome
Variation info
Gene SCN10A
CLNDBN Episodic pain syndrome, familial, 2
Reversed 0
HGVS NC_000003.11:g.38753831C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000074498.3,