rs548065551

Orientation

plus

Stabilized

plus

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

Make rs548065551(A;A)

Make rs548065551(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

17

Position

6690936

Gene

SLC13A5

is a	snp
is	mentioned by
dbSNP	rs548065551
dbSNP (classic)	rs548065551
ClinGen	rs548065551
ebi	rs548065551
HLI	rs548065551
Exac	rs548065551
Gnomad	rs548065551
Varsome	rs548065551
LitVar	rs548065551
Map	rs548065551
PheGenI	rs548065551
Biobank	rs548065551
1000 genomes	rs548065551
hgdp	rs548065551
ensembl	rs548065551
geneview	rs548065551
scholar	rs548065551
google	rs548065551
pharmgkb	rs548065551
gwascentral	rs548065551
openSNP	rs548065551
23andMe	rs548065551
SNPshot	rs548065551
SNPdbe	rs548065551
MSV3d	rs548065551
GWAS Ctlg	rs548065551

Max Magnitude

0

ClinVar
Risk	rs548065551(A;A)
Alt	rs548065551(A;A)
Reference	Rs548065551(G;G)
Significance	Pathogenic
Disease	Epileptic encephalopathy
Variation	info
Gene	SLC13A5
CLNDBN	Epileptic encephalopathy, early infantile, 25
Reversed	0
HGVS	NC_000017.10:g.6594255G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000202396.1,