rs786205161

Orientation

minus

Stabilized

minus

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

Make rs786205161(C;T)

Make rs786205161(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

21

Position

43417679

Gene

SIK1

is a	snp
is	mentioned by
dbSNP	rs786205161
dbSNP (classic)	rs786205161
ClinGen	rs786205161
ebi	rs786205161
HLI	rs786205161
Exac	rs786205161
Gnomad	rs786205161
Varsome	rs786205161
LitVar	rs786205161
Map	rs786205161
PheGenI	rs786205161
Biobank	rs786205161
1000 genomes	rs786205161
hgdp	rs786205161
ensembl	rs786205161
geneview	rs786205161
scholar	rs786205161
google	rs786205161
pharmgkb	rs786205161
gwascentral	rs786205161
openSNP	rs786205161
23andMe	rs786205161
SNPshot	rs786205161
SNPdbe	rs786205161
MSV3d	rs786205161
GWAS Ctlg	rs786205161

Max Magnitude

0

ClinVar
Risk	rs786205161(T;T)
Alt	rs786205161(T;T)
Reference	Rs786205161(C;C)
Significance	Pathogenic
Disease	Epileptic encephalopathy
Variation	info
Gene	LOC102724428 SIK1
CLNDBN	Epileptic encephalopathy, early infantile, 30
Reversed	1
HGVS	NC_000021.8:g.44837559G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000170346.3,