rs1057519449

Orientation

minus

Stabilized

minus

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

Make rs1057519449(C;C)

Make rs1057519449(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

6687629

Gene

SLC13A5

is a	snp
is	mentioned by
dbSNP	rs1057519449
dbSNP (classic)	rs1057519449
ClinGen	rs1057519449
ebi	rs1057519449
HLI	rs1057519449
Exac	rs1057519449
Gnomad	rs1057519449
Varsome	rs1057519449
LitVar	rs1057519449
Map	rs1057519449
PheGenI	rs1057519449
Biobank	rs1057519449
1000 genomes	rs1057519449
hgdp	rs1057519449
ensembl	rs1057519449
geneview	rs1057519449
scholar	rs1057519449
google	rs1057519449
pharmgkb	rs1057519449
gwascentral	rs1057519449
openSNP	rs1057519449
23andMe	rs1057519449
SNPshot	rs1057519449
SNPdbe	rs1057519449
MSV3d	rs1057519449
GWAS Ctlg	rs1057519449

Max Magnitude

0

ClinVar
Risk	rs1057519449(C;C)
Alt	rs1057519449(C;C)
Reference	Rs1057519449(T;T)
Significance	Pathogenic
Disease	Epileptic encephalopathy
Variation	info
Gene	SLC13A5
CLNDBN	Epileptic encephalopathy, early infantile, 25
Reversed	1
HGVS	NC_000017.10:g.6590948A>G
CLNSRC
CLNACC	RCV000416419.1,