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rs281864925

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs281864925(C;C)
Make rs281864925(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position20628028
GeneSLC6A5
is asnp
is mentioned by
dbSNPrs281864925
ebirs281864925
HLIrs281864925
Exacrs281864925
Varsomers281864925
Maprs281864925
PheGenIrs281864925
hapmaprs281864925
1000 genomesrs281864925
hgdprs281864925
ensemblrs281864925
gopubmedrs281864925
geneviewrs281864925
scholarrs281864925
googlers281864925
pharmgkbrs281864925
gwascentralrs281864925
openSNPrs281864925
23andMers281864925
23andMe allrs281864925
SNP Nexus

SNPshotrs281864925
SNPdbers281864925
MSV3drs281864925
GWAS Ctlgrs281864925
Max Magnitude0
ClinVar
Risk rs281864925(C;C)
Alt rs281864925(C;C)
Reference rs281864925(T;T)
Significance Pathogenic
Disease Hyperekplexia 3
Variation info
Gene SLC6A5
CLNDBN Hyperekplexia 3
Reversed 0
HGVS NC_000011.9:g.20649574T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000031924.2,