Have questions? Visit https://www.reddit.com/r/SNPedia

rs281864923

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281864923(-;-)
Make rs281864923(-;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position20601448
GeneSLC6A5
is asnp
is mentioned by
dbSNPrs281864923
ebirs281864923
HLIrs281864923
Exacrs281864923
Varsomers281864923
Maprs281864923
PheGenIrs281864923
hapmaprs281864923
1000 genomesrs281864923
hgdprs281864923
ensemblrs281864923
gopubmedrs281864923
geneviewrs281864923
scholarrs281864923
googlers281864923
pharmgkbrs281864923
gwascentralrs281864923
openSNPrs281864923
23andMers281864923
23andMe allrs281864923
SNP Nexus

SNPshotrs281864923
SNPdbers281864923
MSV3drs281864923
GWAS Ctlgrs281864923
Max Magnitude0
ClinVar
Risk rs281864923(;)
Alt rs281864923(;)
Reference rs281864923(C;C)
Significance Pathogenic
Disease Hyperekplexia 3
Variation info
Gene SLC6A5
CLNDBN Hyperekplexia 3
Reversed 0
HGVS NC_000011.9:g.20622994delC
CLNSRC ClinVar GeneReviews
CLNACC RCV000031925.2,