rs786205159

Orientation

minus

Stabilized

minus

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

Make rs786205159(A;A)

Make rs786205159(A;C)

Reference

GRCh38.p2 38.2/146

Chromosome

21

Position

43420347

Gene

SIK1

is a	snp
is	mentioned by
dbSNP	rs786205159
dbSNP (classic)	rs786205159
ClinGen	rs786205159
ebi	rs786205159
HLI	rs786205159
Exac	rs786205159
Gnomad	rs786205159
Varsome	rs786205159
LitVar	rs786205159
Map	rs786205159
PheGenI	rs786205159
Biobank	rs786205159
1000 genomes	rs786205159
hgdp	rs786205159
ensembl	rs786205159
geneview	rs786205159
scholar	rs786205159
google	rs786205159
pharmgkb	rs786205159
gwascentral	rs786205159
openSNP	rs786205159
23andMe	rs786205159
SNPshot	rs786205159
SNPdbe	rs786205159
MSV3d	rs786205159
GWAS Ctlg	rs786205159

Max Magnitude

0

ClinVar
Risk	rs786205159(A;A)
Alt	rs786205159(A;A)
Reference	Rs786205159(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.44840227G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000170344.3,