rs886039758

Orientation

plus

Stabilized

plus

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

Make rs886039758(-;C)

Make rs886039758(C;C)

Reference

GRCh38.p7 38.3/149

Chromosome

3

Position

132675627

Gene	NPHP3-ACAD11, UBA5

is a	snp
is	mentioned by
dbSNP	rs886039758
dbSNP (classic)	rs886039758
ClinGen	rs886039758
ebi	rs886039758
HLI	rs886039758
Exac	rs886039758
Gnomad	rs886039758
Varsome	rs886039758
LitVar	rs886039758
Map	rs886039758
PheGenI	rs886039758
Biobank	rs886039758
1000 genomes	rs886039758
hgdp	rs886039758
ensembl	rs886039758
geneview	rs886039758
scholar	rs886039758
google	rs886039758
pharmgkb	rs886039758
gwascentral	rs886039758
openSNP	rs886039758
23andMe	rs886039758
SNPshot	rs886039758
SNPdbe	rs886039758
MSV3d	rs886039758
GWAS Ctlg	rs886039758

Max Magnitude

0

ClinVar
Risk	rs886039758(C;C)
Alt	rs886039758(C;C)
Reference	Rs886039758(-;-)
Significance	Pathogenic
Disease	Epileptic encephalopathy
Variation	info
Gene	UBA5 NPHP3-ACAD11
CLNDBN	Epileptic encephalopathy, early infantile, 44
Reversed	0
HGVS	NC_000003.11:g.132394471_132394472insC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000256096.1,