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rs121908497

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121908497(A;G)
Make rs121908497(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position20630717
GeneSLC6A5
is asnp
is mentioned by
dbSNPrs121908497
ebirs121908497
HLIrs121908497
Exacrs121908497
Varsomers121908497
Maprs121908497
PheGenIrs121908497
hapmaprs121908497
1000 genomesrs121908497
hgdprs121908497
ensemblrs121908497
gopubmedrs121908497
geneviewrs121908497
scholarrs121908497
googlers121908497
pharmgkbrs121908497
gwascentralrs121908497
openSNPrs121908497
23andMers121908497
23andMe allrs121908497
SNP Nexus

SNPshotrs121908497
SNPdbers121908497
MSV3drs121908497
GWAS Ctlgrs121908497
Max Magnitude0
OMIM604159
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121908497(G;G)
Alt rs121908497(G;G)
Reference rs121908497(A;A)
Significance Pathogenic
Disease Hyperekplexia 3
Variation info
Gene SLC6A5
CLNDBN Hyperekplexia 3
Reversed 0
HGVS NC_000011.9:g.20652263A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000006122.4,