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rs727502806

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727502806(C;C)
Make rs727502806(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position30993240
GeneSTX1B
is asnp
is mentioned by
dbSNPrs727502806
ebirs727502806
HLIrs727502806
Exacrs727502806
Varsomers727502806
Maprs727502806
PheGenIrs727502806
hapmaprs727502806
1000 genomesrs727502806
hgdprs727502806
ensemblrs727502806
gopubmedrs727502806
geneviewrs727502806
scholarrs727502806
googlers727502806
pharmgkbrs727502806
gwascentralrs727502806
openSNPrs727502806
23andMers727502806
23andMe allrs727502806
SNP Nexus

SNPshotrs727502806
SNPdbers727502806
MSV3drs727502806
GWAS Ctlgrs727502806
Max Magnitude0
ClinVar
Risk rs727502806(C;C)
Alt rs727502806(C;C)
Reference rs727502806(G;G)
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.31004561C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000149794.3,