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rs786205159

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786205159(A;A)
Make rs786205159(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome21
Position43420347
GeneSIK1
is asnp
is mentioned by
dbSNPrs786205159
ebirs786205159
HLIrs786205159
Exacrs786205159
Varsomers786205159
Maprs786205159
PheGenIrs786205159
hapmaprs786205159
1000 genomesrs786205159
hgdprs786205159
ensemblrs786205159
gopubmedrs786205159
geneviewrs786205159
scholarrs786205159
googlers786205159
pharmgkbrs786205159
gwascentralrs786205159
openSNPrs786205159
23andMers786205159
23andMe allrs786205159
SNP Nexus

SNPshotrs786205159
SNPdbers786205159
MSV3drs786205159
GWAS Ctlgrs786205159
Max Magnitude0
ClinVar
Risk rs786205159(A;A)
Alt rs786205159(A;A)
Reference rs786205159(C;C)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene SIK1
CLNDBN Epileptic encephalopathy, early infantile, 30
Reversed 1
HGVS NC_000021.8:g.44840227G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000170344.3,