rs745968949

Orientation

plus

Stabilized

plus

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

Make rs745968949(C;T)

Make rs745968949(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

3

Position

132675290

Gene	NPHP3-ACAD11, UBA5

is a	snp
is	mentioned by
dbSNP	rs745968949
dbSNP (classic)	rs745968949
ClinGen	rs745968949
ebi	rs745968949
HLI	rs745968949
Exac	rs745968949
Gnomad	rs745968949
Varsome	rs745968949
LitVar	rs745968949
Map	rs745968949
PheGenI	rs745968949
Biobank	rs745968949
1000 genomes	rs745968949
hgdp	rs745968949
ensembl	rs745968949
geneview	rs745968949
scholar	rs745968949
google	rs745968949
pharmgkb	rs745968949
gwascentral	rs745968949
openSNP	rs745968949
23andMe	rs745968949
SNPshot	rs745968949
SNPdbe	rs745968949
MSV3d	rs745968949
GWAS Ctlg	rs745968949

Max Magnitude

0

ClinVar
Risk	rs745968949(A;A) rs745968949(T;T)
Alt	rs745968949(A;A) rs745968949(T;T)
Reference	Rs745968949(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.132394134C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000255496.1,