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rs786205161

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786205161(C;T)
Make rs786205161(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome21
Position43417679
GeneSIK1
is asnp
is mentioned by
dbSNPrs786205161
ebirs786205161
HLIrs786205161
Exacrs786205161
Varsomers786205161
Maprs786205161
PheGenIrs786205161
hapmaprs786205161
1000 genomesrs786205161
hgdprs786205161
ensemblrs786205161
gopubmedrs786205161
geneviewrs786205161
scholarrs786205161
googlers786205161
pharmgkbrs786205161
gwascentralrs786205161
openSNPrs786205161
23andMers786205161
23andMe allrs786205161
SNP Nexus

SNPshotrs786205161
SNPdbers786205161
MSV3drs786205161
GWAS Ctlgrs786205161
Max Magnitude0
ClinVar
Risk rs786205161(T;T)
Alt rs786205161(T;T)
Reference rs786205161(C;C)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene SIK1
CLNDBN Epileptic encephalopathy, early infantile, 30
Reversed 1
HGVS NC_000021.8:g.44837559G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000170346.3,