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

rs121908494

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121908494(A;G)
Make rs121908494(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position20628056
GeneSLC6A5
is asnp
is mentioned by
dbSNPrs121908494
ebirs121908494
HLIrs121908494
Exacrs121908494
Varsomers121908494
Maprs121908494
PheGenIrs121908494
hapmaprs121908494
1000 genomesrs121908494
hgdprs121908494
ensemblrs121908494
gopubmedrs121908494
geneviewrs121908494
scholarrs121908494
googlers121908494
pharmgkbrs121908494
gwascentralrs121908494
openSNPrs121908494
23andMers121908494
23andMe allrs121908494
SNP Nexus

SNPshotrs121908494
SNPdbers121908494
MSV3drs121908494
GWAS Ctlgrs121908494
Max Magnitude0
OMIM604159
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121908494(G;G)
Alt rs121908494(G;G)
Reference rs121908494(A;A)
Significance Pathogenic
Disease Hyperekplexia 3
Variation info
Gene SLC6A5
CLNDBN Hyperekplexia 3
Reversed 0
HGVS NC_000011.9:g.20649602A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000006119.4,