rs139164500

Orientation

plus

Stabilized

plus

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

Make rs139164500(A;A)

Make rs139164500(A;G)

Reference

GRCh38.p7 38.3/149

Chromosome

20

Position

63419661

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs139164500
dbSNP (classic)	rs139164500
ClinGen	rs139164500
ebi	rs139164500
HLI	rs139164500
Exac	rs139164500
Gnomad	rs139164500
Varsome	rs139164500
LitVar	rs139164500
Map	rs139164500
PheGenI	rs139164500
Biobank	rs139164500
1000 genomes	rs139164500
hgdp	rs139164500
ensembl	rs139164500
geneview	rs139164500
scholar	rs139164500
google	rs139164500
pharmgkb	rs139164500
gwascentral	rs139164500
openSNP	rs139164500
23andMe	rs139164500
SNPshot	rs139164500
SNPdbe	rs139164500
MSV3d	rs139164500
GWAS Ctlg	rs139164500

Max Magnitude

0

ClinVar
Risk	rs139164500(A;A) rs139164500(C;C) rs139164500(T;T)
Alt	rs139164500(A;A) rs139164500(C;C) rs139164500(T;T)
Reference	Rs139164500(G;G)
Significance	Pathogenic
Disease	not specified Early infantile epileptic encephalopathy 7
Variation	info
Gene	KCNQ2
CLNDBN	not specified Early infantile epileptic encephalopathy 7
Reversed	0
HGVS	NC_000020.10:g.62051014G>A; NC_000020.10:g.62051014G>C
CLNSRC
CLNACC	RCV000278824.1, RCV000408666.1, RCV000187900.2,