rs786205162

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs786205162(C;T)

Make rs786205162(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

21

Position

43417622

Gene

SIK1

is a	snp
is	mentioned by
dbSNP	rs786205162
dbSNP (classic)	rs786205162
ClinGen	rs786205162
ebi	rs786205162
HLI	rs786205162
Exac	rs786205162
Gnomad	rs786205162
Varsome	rs786205162
LitVar	rs786205162
Map	rs786205162
PheGenI	rs786205162
Biobank	rs786205162
1000 genomes	rs786205162
hgdp	rs786205162
ensembl	rs786205162
geneview	rs786205162
scholar	rs786205162
google	rs786205162
pharmgkb	rs786205162
gwascentral	rs786205162
openSNP	rs786205162
23andMe	rs786205162
SNPshot	rs786205162
SNPdbe	rs786205162
MSV3d	rs786205162
GWAS Ctlg	rs786205162

Max Magnitude

0

ClinVar
Risk	rs786205162(T;T)
Alt	rs786205162(T;T)
Reference	Rs786205162(C;C)
Significance	Pathogenic
Disease	Epileptic encephalopathy
Variation	info
Gene	SIK1 LOC102724428
CLNDBN	Epileptic encephalopathy, early infantile, 30
Reversed	1
HGVS	NC_000021.8:g.44837502G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000170347.3,