rs886039760

Orientation

plus

Stabilized

plus

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

Make rs886039760(G;T)

Make rs886039760(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

3

Position

132676476

Gene	NPHP3-ACAD11, UBA5

is a	snp
is	mentioned by
dbSNP	rs886039760
dbSNP (classic)	rs886039760
ClinGen	rs886039760
ebi	rs886039760
HLI	rs886039760
Exac	rs886039760
Gnomad	rs886039760
Varsome	rs886039760
LitVar	rs886039760
Map	rs886039760
PheGenI	rs886039760
Biobank	rs886039760
1000 genomes	rs886039760
hgdp	rs886039760
ensembl	rs886039760
geneview	rs886039760
scholar	rs886039760
google	rs886039760
pharmgkb	rs886039760
gwascentral	rs886039760
openSNP	rs886039760
23andMe	rs886039760
SNPshot	rs886039760
SNPdbe	rs886039760
MSV3d	rs886039760
GWAS Ctlg	rs886039760

Max Magnitude

0

ClinVar
Risk	rs886039760(T;T)
Alt	rs886039760(T;T)
Reference	Rs886039760(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.132395320G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000255798.1,