rs863225447

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(D;D)	0	common genotype

Make rs863225447(-;CAGGAGAAAGT)

Make rs863225447(CAGGAGAAAGT;CAGGAGAAAGT)

Reference

GRCh38.p2 38.2/146

Chromosome

17

Position

6693101

Gene

SLC13A5

is a	snp
is	mentioned by
dbSNP	rs863225447
dbSNP (classic)	rs863225447
ClinGen	rs863225447
ebi	rs863225447
HLI	rs863225447
Exac	rs863225447
Gnomad	rs863225447
Varsome	rs863225447
LitVar	rs863225447
Map	rs863225447
PheGenI	rs863225447
Biobank	rs863225447
1000 genomes	rs863225447
hgdp	rs863225447
ensembl	rs863225447
geneview	rs863225447
scholar	rs863225447
google	rs863225447
pharmgkb	rs863225447
gwascentral	rs863225447
openSNP	rs863225447
23andMe	rs863225447
SNPshot	rs863225447
SNPdbe	rs863225447
MSV3d	rs863225447
GWAS Ctlg	rs863225447

Max Magnitude

0

ClinVar
Risk	rs863225447(CAGGAGAAAGT;CAGGAGAAAGT)
Alt	rs863225447(CAGGAGAAAGT;CAGGAGAAAGT)
Reference	Rs863225447(-;-)
Significance	Pathogenic
Disease	Epileptic encephalopathy
Variation	info
Gene	SLC13A5
CLNDBN	Epileptic encephalopathy, early infantile, 25
Reversed	1
HGVS	NC_000017.10:g.6596421_6596431dupACTTTCTCCTG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000202392.1,