rs1057519307

Orientation

minus

Stabilized

minus

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

Make rs1057519307(-;-)

Make rs1057519307(-;GA)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

9204091

Gene

DENND5A

is a	snp
is	mentioned by
dbSNP	rs1057519307
dbSNP (classic)	rs1057519307
ClinGen	rs1057519307
ebi	rs1057519307
HLI	rs1057519307
Exac	rs1057519307
Gnomad	rs1057519307
Varsome	rs1057519307
LitVar	rs1057519307
Map	rs1057519307
PheGenI	rs1057519307
Biobank	rs1057519307
1000 genomes	rs1057519307
hgdp	rs1057519307
ensembl	rs1057519307
geneview	rs1057519307
scholar	rs1057519307
google	rs1057519307
pharmgkb	rs1057519307
gwascentral	rs1057519307
openSNP	rs1057519307
23andMe	rs1057519307
SNPshot	rs1057519307
SNPdbe	rs1057519307
MSV3d	rs1057519307
GWAS Ctlg	rs1057519307

Max Magnitude

0

ClinVar
Risk	rs1057519307(-;-)
Alt	rs1057519307(-;-)
Reference	Rs1057519307(GA;GA)
Significance	Pathogenic
Disease	Epileptic encephalopathy
Variation	info
Gene	DENND5A
CLNDBN	Epileptic encephalopathy, early infantile, 49
Reversed	1
HGVS	NC_000011.9:g.9225638_9225639delTC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000415577.1,