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rs786205162

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786205162(C;T)
Make rs786205162(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome21
Position43417622
GeneSIK1
is asnp
is mentioned by
dbSNPrs786205162
ebirs786205162
HLIrs786205162
Exacrs786205162
Varsomers786205162
Maprs786205162
PheGenIrs786205162
hapmaprs786205162
1000 genomesrs786205162
hgdprs786205162
ensemblrs786205162
gopubmedrs786205162
geneviewrs786205162
scholarrs786205162
googlers786205162
pharmgkbrs786205162
gwascentralrs786205162
openSNPrs786205162
23andMers786205162
23andMe allrs786205162
SNP Nexus

SNPshotrs786205162
SNPdbers786205162
MSV3drs786205162
GWAS Ctlgrs786205162
Max Magnitude0
ClinVar
Risk rs786205162(T;T)
Alt rs786205162(T;T)
Reference rs786205162(C;C)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene SIK1
CLNDBN Epileptic encephalopathy, early infantile, 30
Reversed 1
HGVS NC_000021.8:g.44837502G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000170347.3,