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rs794726860

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794726860(C;T)
Make rs794726860(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position11025786
GeneSLC6A1
is asnp
is mentioned by
dbSNPrs794726860
dbSNP (classic)rs794726860
ClinGenrs794726860
ebirs794726860
HLIrs794726860
Exacrs794726860
Gnomadrs794726860
Varsomers794726860
LitVarrs794726860
Maprs794726860
PheGenIrs794726860
Biobankrs794726860
1000 genomesrs794726860
hgdprs794726860
ensemblrs794726860
geneviewrs794726860
scholarrs794726860
googlers794726860
pharmgkbrs794726860
gwascentralrs794726860
openSNPrs794726860
23andMers794726860
SNPshotrs794726860
SNPdbers794726860
MSV3drs794726860
GWAS Ctlgrs794726860
Max Magnitude0
ClinVar
Risk rs794726860(T;T)
Alt rs794726860(T;T)
Reference Rs794726860(C;C)
Significance Pathogenic
Disease Myoclonic-atonic epilepsy not provided
Variation info
Gene SLC6A1
CLNDBN Myoclonic-atonic epilepsy not provided
Reversed 0
HGVS NC_000003.11:g.11067472C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000172998.2, RCV000414233.1,