rs886039757

Orientation

plus

Stabilized

plus

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

Make rs886039757(C;T)

Make rs886039757(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

3

Position

132675339

Gene	NPHP3-ACAD11, UBA5

is a	snp
is	mentioned by
dbSNP	rs886039757
dbSNP (classic)	rs886039757
ClinGen	rs886039757
ebi	rs886039757
HLI	rs886039757
Exac	rs886039757
Gnomad	rs886039757
Varsome	rs886039757
LitVar	rs886039757
Map	rs886039757
PheGenI	rs886039757
Biobank	rs886039757
1000 genomes	rs886039757
hgdp	rs886039757
ensembl	rs886039757
geneview	rs886039757
scholar	rs886039757
google	rs886039757
pharmgkb	rs886039757
gwascentral	rs886039757
openSNP	rs886039757
23andMe	rs886039757
SNPshot	rs886039757
SNPdbe	rs886039757
MSV3d	rs886039757
GWAS Ctlg	rs886039757

Max Magnitude

0

ClinVar
Risk	rs886039757(T;T)
Alt	rs886039757(T;T)
Reference	Rs886039757(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.132394183C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000255716.1,