rs863225304

Orientation

plus

Stabilized

plus

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

Make rs863225304(C;C)

Make rs863225304(C;T)

Reference

GRCh38.p2 38.2/147

Chromosome

20

Position

46043294

Gene

SLC12A5

is a	snp
is	mentioned by
dbSNP	rs863225304
dbSNP (classic)	rs863225304
ClinGen	rs863225304
ebi	rs863225304
HLI	rs863225304
Exac	rs863225304
Gnomad	rs863225304
Varsome	rs863225304
LitVar	rs863225304
Map	rs863225304
PheGenI	rs863225304
Biobank	rs863225304
1000 genomes	rs863225304
hgdp	rs863225304
ensembl	rs863225304
geneview	rs863225304
scholar	rs863225304
google	rs863225304
pharmgkb	rs863225304
gwascentral	rs863225304
openSNP	rs863225304
23andMe	rs863225304
SNPshot	rs863225304
SNPdbe	rs863225304
MSV3d	rs863225304
GWAS Ctlg	rs863225304

Max Magnitude

0

ClinVar
Risk	rs863225304(C;C)
Alt	rs863225304(C;C)
Reference	Rs863225304(T;T)
Significance	Pathogenic
Disease	Early infantile epileptic encephalopathy 34
Variation	info
Gene	SLC12A5
CLNDBN	Early infantile epileptic encephalopathy 34
Reversed	0
HGVS	NC_000020.10:g.44671933T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000202258.2,