rs886039761

Orientation

plus

Stabilized

plus

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

Make rs886039761(A;A)

Make rs886039761(A;G)

Reference

GRCh38.p7 38.3/149

Chromosome

3

Position

132670973

Gene	NPHP3-ACAD11, UBA5

is a	snp
is	mentioned by
dbSNP	rs886039761
dbSNP (classic)	rs886039761
ClinGen	rs886039761
ebi	rs886039761
HLI	rs886039761
Exac	rs886039761
Gnomad	rs886039761
Varsome	rs886039761
LitVar	rs886039761
Map	rs886039761
PheGenI	rs886039761
Biobank	rs886039761
1000 genomes	rs886039761
hgdp	rs886039761
ensembl	rs886039761
geneview	rs886039761
scholar	rs886039761
google	rs886039761
pharmgkb	rs886039761
gwascentral	rs886039761
openSNP	rs886039761
23andMe	rs886039761
SNPshot	rs886039761
SNPdbe	rs886039761
MSV3d	rs886039761
GWAS Ctlg	rs886039761

Max Magnitude

0

ClinVar
Risk	rs886039761(A;A)
Alt	rs886039761(A;A)
Reference	Rs886039761(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.132389817G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000254833.1,