rs1057524880

Orientation

minus

Stabilized

minus

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

Make rs1057524880(A;G)

Make rs1057524880(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

21

Position

32645791

Gene

SYNJ1

is a	snp
is	mentioned by
dbSNP	rs1057524880
dbSNP (classic)	rs1057524880
ClinGen	rs1057524880
ebi	rs1057524880
HLI	rs1057524880
Exac	rs1057524880
Gnomad	rs1057524880
Varsome	rs1057524880
LitVar	rs1057524880
Map	rs1057524880
PheGenI	rs1057524880
Biobank	rs1057524880
1000 genomes	rs1057524880
hgdp	rs1057524880
ensembl	rs1057524880
geneview	rs1057524880
scholar	rs1057524880
google	rs1057524880
pharmgkb	rs1057524880
gwascentral	rs1057524880
openSNP	rs1057524880
23andMe	rs1057524880
SNPshot	rs1057524880
SNPdbe	rs1057524880
MSV3d	rs1057524880
GWAS Ctlg	rs1057524880

Max Magnitude

0

ClinVar
Risk	rs1057524880(G;G)
Alt	rs1057524880(G;G)
Reference	Rs1057524880(A;A)
Significance	Pathogenic
Disease	Epileptic encephalopathy
Variation	info
Gene	SYNJ1
CLNDBN	Epileptic encephalopathy, early infantile, 53
Reversed	1
HGVS	NC_000021.8:g.34018101T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000445440.1,