rs532178791

Orientation

plus

Stabilized

plus

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

Make rs532178791(A;G)

Make rs532178791(G;G)

Reference

GRCh38.p7 38.3/149

Chromosome

3

Position

132665830

Gene	NPHP3-ACAD11, UBA5

is a	snp
is	mentioned by
dbSNP	rs532178791
dbSNP (classic)	rs532178791
ClinGen	rs532178791
ebi	rs532178791
HLI	rs532178791
Exac	rs532178791
Gnomad	rs532178791
Varsome	rs532178791
LitVar	rs532178791
Map	rs532178791
PheGenI	rs532178791
Biobank	rs532178791
1000 genomes	rs532178791
hgdp	rs532178791
ensembl	rs532178791
geneview	rs532178791
scholar	rs532178791
google	rs532178791
pharmgkb	rs532178791
gwascentral	rs532178791
openSNP	rs532178791
23andMe	rs532178791
SNPshot	rs532178791
SNPdbe	rs532178791
MSV3d	rs532178791
GWAS Ctlg	rs532178791

Max Magnitude

0

ClinVar
Risk	rs532178791(G;G)
Alt	rs532178791(G;G)
Reference	Rs532178791(A;A)
Significance	Pathogenic
Disease	Epileptic encephalopathy
Variation	info
Gene	UBA5 NPHP3-ACAD11
CLNDBN	Epileptic encephalopathy, early infantile, 44
Reversed	0
HGVS	NC_000003.11:g.132384674A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000255216.1,