rs397514587

Orientation

plus

Stabilized

plus

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

Make rs397514587(A;G)

Make rs397514587(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

111685059

Gene

ALG13

is a	snp
is	mentioned by
dbSNP	rs397514587
dbSNP (classic)	rs397514587
ClinGen	rs397514587
ebi	rs397514587
HLI	rs397514587
Exac	rs397514587
Gnomad	rs397514587
Varsome	rs397514587
LitVar	rs397514587
Map	rs397514587
PheGenI	rs397514587
Biobank	rs397514587
1000 genomes	rs397514587
hgdp	rs397514587
ensembl	rs397514587
geneview	rs397514587
scholar	rs397514587
google	rs397514587
pharmgkb	rs397514587
gwascentral	rs397514587
openSNP	rs397514587
23andMe	rs397514587
SNPshot	rs397514587
SNPdbe	rs397514587
MSV3d	rs397514587
GWAS Ctlg	rs397514587

Max Magnitude

0

ClinVar
Risk	rs397514587(G;G)
Alt	rs397514587(G;G)
Reference	Rs397514587(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,