rs374052333

Orientation

plus

Stabilized

plus

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

Make rs374052333(C;T)

Make rs374052333(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

3

Position

132671032

Gene	NPHP3-ACAD11, UBA5

is a	snp
is	mentioned by
dbSNP	rs374052333
dbSNP (classic)	rs374052333
ClinGen	rs374052333
ebi	rs374052333
HLI	rs374052333
Exac	rs374052333
Gnomad	rs374052333
Varsome	rs374052333
LitVar	rs374052333
Map	rs374052333
PheGenI	rs374052333
Biobank	rs374052333
1000 genomes	rs374052333
hgdp	rs374052333
ensembl	rs374052333
geneview	rs374052333
scholar	rs374052333
google	rs374052333
pharmgkb	rs374052333
gwascentral	rs374052333
openSNP	rs374052333
23andMe	rs374052333
SNPshot	rs374052333
SNPdbe	rs374052333
MSV3d	rs374052333
GWAS Ctlg	rs374052333

Max Magnitude

0

ClinVar
Risk	rs374052333(G;G) rs374052333(T;T)
Alt	rs374052333(G;G) rs374052333(T;T)
Reference	Rs374052333(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.132389876C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000255198.1,