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rs749240316

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs749240316(A;A)
Make rs749240316(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position11026281
GeneSLC6A1
is asnp
is mentioned by
dbSNPrs749240316
dbSNP (old)rs749240316
ClinGenrs749240316
ebirs749240316
HLIrs749240316
Exacrs749240316
Varsomers749240316
Maprs749240316
PheGenIrs749240316
Biobankrs749240316
1000 genomesrs749240316
hgdprs749240316
ensemblrs749240316
gopubmedrs749240316
geneviewrs749240316
scholarrs749240316
googlers749240316
pharmgkbrs749240316
gwascentralrs749240316
openSNPrs749240316
23andMers749240316
23andMe allrs749240316
SNP Nexus

SNPshotrs749240316
SNPdbers749240316
MSV3drs749240316
GWAS Ctlgrs749240316
Max Magnitude0
ClinVar
Risk rs749240316(A;A) rs749240316(C;C)
Alt rs749240316(A;A) rs749240316(C;C)
Reference Rs749240316(G;G)
Significance Pathogenic
Disease Myoclonic-atonic epilepsy
Variation info
Gene SLC6A1
CLNDBN Myoclonic-atonic epilepsy
Reversed 0
HGVS NC_000003.11:g.11067967G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000172996.2,