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rs724159973

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs724159973(C;T)
Make rs724159973(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position31001133
GeneSTX1B
is asnp
is mentioned by
dbSNPrs724159973
ebirs724159973
HLIrs724159973
Exacrs724159973
Varsomers724159973
Maprs724159973
PheGenIrs724159973
hapmaprs724159973
1000 genomesrs724159973
hgdprs724159973
ensemblrs724159973
gopubmedrs724159973
geneviewrs724159973
scholarrs724159973
googlers724159973
pharmgkbrs724159973
gwascentralrs724159973
openSNPrs724159973
23andMers724159973
23andMe allrs724159973
SNP Nexus

SNPshotrs724159973
SNPdbers724159973
MSV3drs724159973
GWAS Ctlgrs724159973
Max Magnitude0
ClinVar
Risk rs724159973(T;T)
Alt rs724159973(T;T)
Reference rs724159973(C;C)
Significance Pathogenic
Disease Generalized epilepsy with febrile seizures plus
Variation info
Gene STX1B
CLNDBN Generalized epilepsy with febrile seizures plus, type 9
Reversed 1
HGVS NC_000016.9:g.31012454G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000149790.3,