rs1057519000

Orientation

minus

Stabilized

minus

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

Make rs1057519000(-;-)

Make rs1057519000(-;TGCAGTGGGC)

Reference

GRCh38.p7 38.3/150

Chromosome

X

Position

48905400

Gene

SLC35A2

is a	snp
is	mentioned by
dbSNP	rs1057519000
dbSNP (classic)	rs1057519000
ClinGen	rs1057519000
ebi	rs1057519000
HLI	rs1057519000
Exac	rs1057519000
Gnomad	rs1057519000
Varsome	rs1057519000
LitVar	rs1057519000
Map	rs1057519000
PheGenI	rs1057519000
Biobank	rs1057519000
1000 genomes	rs1057519000
hgdp	rs1057519000
ensembl	rs1057519000
geneview	rs1057519000
scholar	rs1057519000
google	rs1057519000
pharmgkb	rs1057519000
gwascentral	rs1057519000
openSNP	rs1057519000
23andMe	rs1057519000
SNPshot	rs1057519000
SNPdbe	rs1057519000
MSV3d	rs1057519000
GWAS Ctlg	rs1057519000

Max Magnitude

0

ClinVar
Risk	rs1057519000(-;-)
Alt	rs1057519000(-;-)
Reference	Rs1057519000(TGCAGTGGGC;TGCAGTGGGC)
Significance	Probable-Pathogenic
Disease	Epileptic encephalopathy
Variation	info
Gene	SLC35A2
CLNDBN	Epileptic encephalopathy
Reversed	1
HGVS	NC_000023.10:g.48762677_48762686delGCCCACTGCA
CLNSRC
CLNACC	RCV000415123.1,