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rs724159974

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs724159974(A;A)
Make rs724159974(A;T)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position30993375
GeneSTX1B
is asnp
is mentioned by
dbSNPrs724159974
dbSNP (classic)rs724159974
ClinGenrs724159974
ebirs724159974
HLIrs724159974
Exacrs724159974
Gnomadrs724159974
Varsomers724159974
LitVarrs724159974
Maprs724159974
PheGenIrs724159974
Biobankrs724159974
1000 genomesrs724159974
hgdprs724159974
ensemblrs724159974
geneviewrs724159974
scholarrs724159974
googlers724159974
pharmgkbrs724159974
gwascentralrs724159974
openSNPrs724159974
23andMers724159974
SNPshotrs724159974
SNPdbers724159974
MSV3drs724159974
GWAS Ctlgrs724159974
Max Magnitude0
ClinVar
Risk rs724159974(A;A)
Alt rs724159974(A;A)
Reference Rs724159974(T;T)
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.31004696A>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000149793.3,