rs774318611

Orientation

plus

Stabilized

plus

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

Make rs774318611(A;A)

Make rs774318611(A;G)

Reference

GRCh38.p7 38.3/149

Chromosome

3

Position

132665825

Gene	NPHP3-ACAD11, UBA5

is a	snp
is	mentioned by
dbSNP	rs774318611
dbSNP (classic)	rs774318611
ClinGen	rs774318611
ebi	rs774318611
HLI	rs774318611
Exac	rs774318611
Gnomad	rs774318611
Varsome	rs774318611
LitVar	rs774318611
Map	rs774318611
PheGenI	rs774318611
Biobank	rs774318611
1000 genomes	rs774318611
hgdp	rs774318611
ensembl	rs774318611
geneview	rs774318611
scholar	rs774318611
google	rs774318611
pharmgkb	rs774318611
gwascentral	rs774318611
openSNP	rs774318611
23andMe	rs774318611
SNPshot	rs774318611
SNPdbe	rs774318611
MSV3d	rs774318611
GWAS Ctlg	rs774318611

Max Magnitude

0

ClinVar
Risk	rs774318611(A;A)
Alt	rs774318611(A;A)
Reference	Rs774318611(G;G)
Significance	Pathogenic
Disease	Epileptic encephalopathy
Variation	info
Gene	UBA5 NPHP3-ACAD11
CLNDBN	Epileptic encephalopathy, early infantile, 44
Reversed	0
HGVS	NC_000003.11:g.132384669G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000254932.1,