rs1060503517

Orientation

plus

Stabilized

plus

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

Make rs1060503517(-;-)

Make rs1060503517(-;TGGTG)

Make rs1060503517(TGGTG;TGGTG)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

92942895

Gene

CHD2

is a	snp
is	mentioned by
dbSNP	rs1060503517
dbSNP (classic)	rs1060503517
ClinGen	rs1060503517
ebi	rs1060503517
HLI	rs1060503517
Exac	rs1060503517
Gnomad	rs1060503517
Varsome	rs1060503517
LitVar	rs1060503517
Map	rs1060503517
PheGenI	rs1060503517
Biobank	rs1060503517
1000 genomes	rs1060503517
hgdp	rs1060503517
ensembl	rs1060503517
geneview	rs1060503517
scholar	rs1060503517
google	rs1060503517
pharmgkb	rs1060503517
gwascentral	rs1060503517
openSNP	rs1060503517
23andMe	rs1060503517
SNPshot	rs1060503517
SNPdbe	rs1060503517
MSV3d	rs1060503517
GWAS Ctlg	rs1060503517

Max Magnitude

0

ClinVar
Risk	rs1060503517(-;-)
Alt	rs1060503517(-;-)
Reference	Rs1060503517(GTGGT;GTGGT)
Significance	Pathogenic
Disease	Epileptic encephalopathy
Variation	info
Gene	CHD2
CLNDBN	Epileptic encephalopathy, childhood-onset
Reversed	0
HGVS	NC_000015.9:g.93486125_93486129delTGGTG
CLNSRC
CLNACC	RCV000465957.1,