rs1057524878

Orientation

minus

Stabilized

minus

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

Make rs1057524878(A;A)

Make rs1057524878(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

21

Position

32657766

Gene

SYNJ1

is a	snp
is	mentioned by
dbSNP	rs1057524878
dbSNP (classic)	rs1057524878
ClinGen	rs1057524878
ebi	rs1057524878
HLI	rs1057524878
Exac	rs1057524878
Gnomad	rs1057524878
Varsome	rs1057524878
LitVar	rs1057524878
Map	rs1057524878
PheGenI	rs1057524878
Biobank	rs1057524878
1000 genomes	rs1057524878
hgdp	rs1057524878
ensembl	rs1057524878
geneview	rs1057524878
scholar	rs1057524878
google	rs1057524878
pharmgkb	rs1057524878
gwascentral	rs1057524878
openSNP	rs1057524878
23andMe	rs1057524878
SNPshot	rs1057524878
SNPdbe	rs1057524878
MSV3d	rs1057524878
GWAS Ctlg	rs1057524878

Max Magnitude

0

ClinVar
Risk	rs1057524878(A;A)
Alt	rs1057524878(A;A)
Reference	Rs1057524878(G;G)
Significance	Pathogenic
Disease	Epileptic encephalopathy
Variation	info
Gene	SYNJ1
CLNDBN	Epileptic encephalopathy, early infantile, 53
Reversed	1
HGVS	NC_000021.8:g.34030076C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000445520.1,