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rs786205163

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786205163(A;A)
Make rs786205163(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome21
Position43417613
GeneSIK1
is asnp
is mentioned by
dbSNPrs786205163
ebirs786205163
HLIrs786205163
Exacrs786205163
Varsomers786205163
Maprs786205163
PheGenIrs786205163
hapmaprs786205163
1000 genomesrs786205163
hgdprs786205163
ensemblrs786205163
gopubmedrs786205163
geneviewrs786205163
scholarrs786205163
googlers786205163
pharmgkbrs786205163
gwascentralrs786205163
openSNPrs786205163
23andMers786205163
23andMe allrs786205163
SNP Nexus

SNPshotrs786205163
SNPdbers786205163
MSV3drs786205163
GWAS Ctlgrs786205163
Max Magnitude0
ClinVar
Risk rs786205163(A;A)
Alt rs786205163(A;A)
Reference rs786205163(G;G)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene SIK1
CLNDBN Epileptic encephalopathy, early infantile, 30
Reversed 1
HGVS NC_000021.8:g.44837493C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000170348.4,