rs397515420

Orientation

minus

Stabilized

minus

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

Make rs397515420(A;G)

Make rs397515420(G;G)

Reference

GRCh38 38.1/141

Chromosome

20

Position

63413577

Gene	KCNQ2, LOC105372724

is a	snp
is	mentioned by
dbSNP	rs397515420
dbSNP (classic)	rs397515420
ClinGen	rs397515420
ebi	rs397515420
HLI	rs397515420
Exac	rs397515420
Gnomad	rs397515420
Varsome	rs397515420
LitVar	rs397515420
Map	rs397515420
PheGenI	rs397515420
Biobank	rs397515420
1000 genomes	rs397515420
hgdp	rs397515420
ensembl	rs397515420
geneview	rs397515420
scholar	rs397515420
google	rs397515420
pharmgkb	rs397515420
gwascentral	rs397515420
openSNP	rs397515420
23andMe	rs397515420
SNPshot	rs397515420
SNPdbe	rs397515420
MSV3d	rs397515420
GWAS Ctlg	rs397515420

Max Magnitude

0

ClinVar
Risk	rs397515420(G;G)
Alt	rs397515420(G;G)
Reference	Rs397515420(A;A)
Significance	Pathogenic
Disease	Early infantile epileptic encephalopathy 7
Variation	info
Gene	KCNQ2
CLNDBN	Early infantile epileptic encephalopathy 7
Reversed	1
HGVS	NC_000020.10:g.62044930T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000032980.3,