Have questions? Visit https://www.reddit.com/r/SNPedia

rs483352921

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs483352921(C;G)
Make rs483352921(G;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position38894945
GeneSCN11A
is asnp
is mentioned by
dbSNPrs483352921
dbSNP (classic)rs483352921
ClinGenrs483352921
ebirs483352921
HLIrs483352921
Exacrs483352921
Gnomadrs483352921
Varsomers483352921
LitVarrs483352921
Maprs483352921
PheGenIrs483352921
Biobankrs483352921
1000 genomesrs483352921
hgdprs483352921
ensemblrs483352921
geneviewrs483352921
scholarrs483352921
googlers483352921
pharmgkbrs483352921
gwascentralrs483352921
openSNPrs483352921
23andMers483352921
SNPshotrs483352921
SNPdbers483352921
MSV3drs483352921
GWAS Ctlgrs483352921
Max Magnitude0
ClinVar
Risk rs483352921(G;G)
Alt rs483352921(G;G)
Reference Rs483352921(C;C)
Significance Pathogenic
Disease Episodic pain syndrome
Variation info
Gene SCN11A
CLNDBN Episodic pain syndrome, familial, 3
Reversed 1
HGVS NC_000003.11:g.38936436G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000074496.3,