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rs281864924

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281864924(G;TT)
Make rs281864924(TT;TT)
ReferenceGRCh38 38.1/141
Chromosome11
Position20626741
GeneSLC6A5
is asnp
is mentioned by
dbSNPrs281864924
ebirs281864924
HLIrs281864924
Exacrs281864924
Varsomers281864924
Maprs281864924
PheGenIrs281864924
hapmaprs281864924
1000 genomesrs281864924
hgdprs281864924
ensemblrs281864924
gopubmedrs281864924
geneviewrs281864924
scholarrs281864924
googlers281864924
pharmgkbrs281864924
gwascentralrs281864924
openSNPrs281864924
23andMers281864924
23andMe allrs281864924
SNP Nexus

SNPshotrs281864924
SNPdbers281864924
MSV3drs281864924
GWAS Ctlgrs281864924
Max Magnitude0
ClinVar
Risk rs281864924(TT;TT)
Alt rs281864924(TT;TT)
Reference rs281864924(G;G)
Significance Pathogenic
Disease Hyperekplexia 3
Variation info
Gene SLC6A5
CLNDBN Hyperekplexia 3
Reversed 0
HGVS NC_000011.9:g.20648287delGinsTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000006118.4,