rs867599353

Orientation

plus

Stabilized

plus

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

Make rs867599353(A;G)

Make rs867599353(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

X

Position

111685000

Gene

ALG13

is a	snp
is	mentioned by
dbSNP	rs867599353
dbSNP (classic)	rs867599353
ClinGen	rs867599353
ebi	rs867599353
HLI	rs867599353
Exac	rs867599353
Gnomad	rs867599353
Varsome	rs867599353
LitVar	rs867599353
Map	rs867599353
PheGenI	rs867599353
Biobank	rs867599353
1000 genomes	rs867599353
hgdp	rs867599353
ensembl	rs867599353
geneview	rs867599353
scholar	rs867599353
google	rs867599353
pharmgkb	rs867599353
gwascentral	rs867599353
openSNP	rs867599353
23andMe	rs867599353
SNPshot	rs867599353
SNPdbe	rs867599353
MSV3d	rs867599353
GWAS Ctlg	rs867599353

Max Magnitude

0

ClinVar
Risk	rs867599353(G;G)
Alt	rs867599353(G;G)
Reference	Rs867599353(A;A)
Significance	Pathogenic
Disease	Epileptic encephalopathy
Variation	info
Gene	ALG13
CLNDBN	Epileptic encephalopathy, early infantile, 36
Reversed	0
HGVS	NC_000023.10:g.110928287A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000032994.9,