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

rs121908493

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908493(A;A)
Make rs121908493(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position20617755
GeneSLC6A5
is asnp
is mentioned by
dbSNPrs121908493
ebirs121908493
HLIrs121908493
Exacrs121908493
Varsomers121908493
Maprs121908493
PheGenIrs121908493
hapmaprs121908493
1000 genomesrs121908493
hgdprs121908493
ensemblrs121908493
gopubmedrs121908493
geneviewrs121908493
scholarrs121908493
googlers121908493
pharmgkbrs121908493
gwascentralrs121908493
openSNPrs121908493
23andMers121908493
23andMe allrs121908493
SNP Nexus

SNPshotrs121908493
SNPdbers121908493
MSV3drs121908493
GWAS Ctlgrs121908493
Max Magnitude0
OMIM604159
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121908493(A;A)
Alt rs121908493(A;A)
Reference rs121908493(C;C)
Significance Pathogenic
Disease Hyperekplexia 3
Variation info
Gene SLC6A5
CLNDBN Hyperekplexia 3
Reversed 0
HGVS NC_000011.9:g.20639301C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006117.2,