rs886039759

Orientation

plus

Stabilized

plus

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

Make rs886039759(A;A)

Make rs886039759(A;G)

Reference

GRCh38.p7 38.3/149

Chromosome

3

Position

132672143

Gene	NPHP3-ACAD11, UBA5

is a	snp
is	mentioned by
dbSNP	rs886039759
dbSNP (classic)	rs886039759
ClinGen	rs886039759
ebi	rs886039759
HLI	rs886039759
Exac	rs886039759
Gnomad	rs886039759
Varsome	rs886039759
LitVar	rs886039759
Map	rs886039759
PheGenI	rs886039759
Biobank	rs886039759
1000 genomes	rs886039759
hgdp	rs886039759
ensembl	rs886039759
geneview	rs886039759
scholar	rs886039759
google	rs886039759
pharmgkb	rs886039759
gwascentral	rs886039759
openSNP	rs886039759
23andMe	rs886039759
SNPshot	rs886039759
SNPdbe	rs886039759
MSV3d	rs886039759
GWAS Ctlg	rs886039759

Max Magnitude

0

ClinVar
Risk	rs886039759(A;A)
Alt	rs886039759(A;A)
Reference	Rs886039759(G;G)
Significance	Pathogenic
Disease	Epileptic encephalopathy
Variation	info
Gene	UBA5 NPHP3-ACAD11
CLNDBN	Epileptic encephalopathy, early infantile, 44
Reversed	0
HGVS	NC_000003.11:g.132390987G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000255234.1,