rs886039756

Orientation

plus

Stabilized

plus

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

Make rs886039756(C;T)

Make rs886039756(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

3

Position

132665842

Gene	NPHP3-ACAD11, UBA5

is a	snp
is	mentioned by
dbSNP	rs886039756
dbSNP (classic)	rs886039756
ClinGen	rs886039756
ebi	rs886039756
HLI	rs886039756
Exac	rs886039756
Gnomad	rs886039756
Varsome	rs886039756
LitVar	rs886039756
Map	rs886039756
PheGenI	rs886039756
Biobank	rs886039756
1000 genomes	rs886039756
hgdp	rs886039756
ensembl	rs886039756
geneview	rs886039756
scholar	rs886039756
google	rs886039756
pharmgkb	rs886039756
gwascentral	rs886039756
openSNP	rs886039756
23andMe	rs886039756
SNPshot	rs886039756
SNPdbe	rs886039756
MSV3d	rs886039756
GWAS Ctlg	rs886039756

Max Magnitude

0

ClinVar
Risk	rs886039756(T;T)
Alt	rs886039756(T;T)
Reference	Rs886039756(C;C)
Significance	Pathogenic
Disease	Epileptic encephalopathy
Variation	info
Gene	UBA5 NPHP3-ACAD11
CLNDBN	Epileptic encephalopathy, early infantile, 44
Reversed	0
HGVS	NC_000003.11:g.132384686C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000256120.1,