rs1057519545

Orientation

plus

Stabilized

plus

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

Make rs1057519545(C;C)

Make rs1057519545(C;G)

Reference

GRCh38.p7 38.3/150

Chromosome

6

Position

33435225

Gene

SYNGAP1

is a	snp
is	mentioned by
dbSNP	rs1057519545
dbSNP (classic)	rs1057519545
ClinGen	rs1057519545
ebi	rs1057519545
HLI	rs1057519545
Exac	rs1057519545
Gnomad	rs1057519545
Varsome	rs1057519545
LitVar	rs1057519545
Map	rs1057519545
PheGenI	rs1057519545
Biobank	rs1057519545
1000 genomes	rs1057519545
hgdp	rs1057519545
ensembl	rs1057519545
geneview	rs1057519545
scholar	rs1057519545
google	rs1057519545
pharmgkb	rs1057519545
gwascentral	rs1057519545
openSNP	rs1057519545
23andMe	rs1057519545
SNPshot	rs1057519545
SNPdbe	rs1057519545
MSV3d	rs1057519545
GWAS Ctlg	rs1057519545

Max Magnitude

0

ClinVar
Risk	rs1057519545(C;C)
Alt	rs1057519545(C;C)
Reference	Rs1057519545(G;G)
Significance	Probable-Pathogenic
Disease	Epileptic encephalopathy
Variation	info
Gene	SYNGAP1
CLNDBN	Epileptic encephalopathy
Reversed	0
HGVS	NC_000006.11:g.33403002G>C
CLNSRC
CLNACC	RCV000416992.1,