rs786205160

Orientation

minus

Stabilized

minus

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

Make rs786205160(G;T)

Make rs786205160(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

21

Position

43419939

Gene

SIK1

is a	snp
is	mentioned by
dbSNP	rs786205160
dbSNP (classic)	rs786205160
ClinGen	rs786205160
ebi	rs786205160
HLI	rs786205160
Exac	rs786205160
Gnomad	rs786205160
Varsome	rs786205160
LitVar	rs786205160
Map	rs786205160
PheGenI	rs786205160
Biobank	rs786205160
1000 genomes	rs786205160
hgdp	rs786205160
ensembl	rs786205160
geneview	rs786205160
scholar	rs786205160
google	rs786205160
pharmgkb	rs786205160
gwascentral	rs786205160
openSNP	rs786205160
23andMe	rs786205160
SNPshot	rs786205160
SNPdbe	rs786205160
MSV3d	rs786205160
GWAS Ctlg	rs786205160

Max Magnitude

0

ClinVar
Risk	rs786205160(T;T)
Alt	rs786205160(T;T)
Reference	Rs786205160(G;G)
Significance	Pathogenic
Disease	Epileptic encephalopathy
Variation	info
Gene	SIK1 LOC102724428
CLNDBN	Epileptic encephalopathy, early infantile, 30
Reversed	1
HGVS	NC_000021.8:g.44839819C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000170345.3,