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rs121908496

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908496(C;G)
Make rs121908496(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position20607583
GeneSLC6A5
is asnp
is mentioned by
dbSNPrs121908496
ebirs121908496
HLIrs121908496
Exacrs121908496
Varsomers121908496
Maprs121908496
PheGenIrs121908496
hapmaprs121908496
1000 genomesrs121908496
hgdprs121908496
ensemblrs121908496
gopubmedrs121908496
geneviewrs121908496
scholarrs121908496
googlers121908496
pharmgkbrs121908496
gwascentralrs121908496
openSNPrs121908496
23andMers121908496
23andMe allrs121908496
SNP Nexus

SNPshotrs121908496
SNPdbers121908496
MSV3drs121908496
GWAS Ctlgrs121908496
Max Magnitude0
OMIM604159
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121908496(G;G)
Alt rs121908496(G;G)
Reference rs121908496(C;C)
Significance Pathogenic
Disease Hyperekplexia 3
Variation info
Gene SLC6A5
CLNDBN Hyperekplexia 3
Reversed 0
HGVS NC_000011.9:g.20629129C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000006121.4,