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rs121908498

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908498(C;T)
Make rs121908498(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position20626721
GeneSLC6A5
is asnp
is mentioned by
dbSNPrs121908498
ebirs121908498
HLIrs121908498
Exacrs121908498
Varsomers121908498
Maprs121908498
PheGenIrs121908498
hapmaprs121908498
1000 genomesrs121908498
hgdprs121908498
ensemblrs121908498
gopubmedrs121908498
geneviewrs121908498
scholarrs121908498
googlers121908498
pharmgkbrs121908498
gwascentralrs121908498
openSNPrs121908498
23andMers121908498
23andMe allrs121908498
SNP Nexus

SNPshotrs121908498
SNPdbers121908498
MSV3drs121908498
GWAS Ctlgrs121908498
Max Magnitude0
OMIM604159
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121908498(A,T;A,T)
Alt rs121908498(A,T;A,T)
Reference rs121908498(C;C)
Significance Pathogenic
Disease Hyperekplexia 3
Variation info
Gene SLC6A5
CLNDBN Hyperekplexia 3
Reversed 0
HGVS NC_000011.9:g.20648267C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006123.3,