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rs121908495

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908495(C;T)
Make rs121908495(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position20638477
GeneSLC6A5
is asnp
is mentioned by
dbSNPrs121908495
ebirs121908495
HLIrs121908495
Exacrs121908495
Varsomers121908495
Maprs121908495
PheGenIrs121908495
hapmaprs121908495
1000 genomesrs121908495
hgdprs121908495
ensemblrs121908495
gopubmedrs121908495
geneviewrs121908495
scholarrs121908495
googlers121908495
pharmgkbrs121908495
gwascentralrs121908495
openSNPrs121908495
23andMers121908495
23andMe allrs121908495
SNP Nexus

SNPshotrs121908495
SNPdbers121908495
MSV3drs121908495
GWAS Ctlgrs121908495
Max Magnitude0
OMIM604159
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121908495(T;T)
Alt rs121908495(T;T)
Reference rs121908495(C;C)
Significance Pathogenic
Disease Hyperekplexia 3
Variation info
Gene SLC6A5
CLNDBN Hyperekplexia 3
Reversed 0
HGVS NC_000011.9:g.20660023C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006120.4,