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rs786205160

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786205160(G;T)
Make rs786205160(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome21
Position43419939
GeneSIK1
is asnp
is mentioned by
dbSNPrs786205160
ebirs786205160
HLIrs786205160
Exacrs786205160
Varsomers786205160
Maprs786205160
PheGenIrs786205160
hapmaprs786205160
1000 genomesrs786205160
hgdprs786205160
ensemblrs786205160
gopubmedrs786205160
geneviewrs786205160
scholarrs786205160
googlers786205160
pharmgkbrs786205160
gwascentralrs786205160
openSNPrs786205160
23andMers786205160
23andMe allrs786205160
SNP Nexus

SNPshotrs786205160
SNPdbers786205160
MSV3drs786205160
GWAS Ctlgrs786205160
Max Magnitude0
ClinVar
Risk rs786205160(T;T)
Alt rs786205160(T;T)
Reference rs786205160(G;G)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene SIK1
CLNDBN Epileptic encephalopathy, early infantile, 30
Reversed 1
HGVS NC_000021.8:g.44839819C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000170345.3,