rs730882060

Merged into

rs118192246

Orientation

minus

Stabilized

minus

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

Make rs730882060(-;GGGCC)

Make rs730882060(GGGCC;GGGCC)

Reference

GRCh38.p2 38.2/144

Chromosome

20

Position

63406653

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs730882060
dbSNP (classic)	rs730882060
ClinGen	rs730882060
ebi	rs730882060
HLI	rs730882060
Exac	rs730882060
Gnomad	rs730882060
Varsome	rs730882060
LitVar	rs730882060
Map	rs730882060
PheGenI	rs730882060
Biobank	rs730882060
1000 genomes	rs730882060
hgdp	rs730882060
ensembl	rs730882060
geneview	rs730882060
scholar	rs730882060
google	rs730882060
pharmgkb	rs730882060
gwascentral	rs730882060
openSNP	rs730882060
23andMe	rs730882060
SNPshot	rs730882060
SNPdbe	rs730882060
MSV3d	rs730882060
GWAS Ctlg	rs730882060

Status

Merged into rs118192246

Max Magnitude

0

ClinVar
Risk	rs730882060(GGGCC;GGGCC)
Alt	rs730882060(GGGCC;GGGCC)
Reference	Rs730882060(;)
Significance	Pathogenic
Disease	Benign familial neonatal seizures 1
Variation	info
Gene	KCNQ2
CLNDBN	Benign familial neonatal seizures 1
Reversed	1
HGVS	NC_000020.10:g.62038007_62038011dupGGCCC
CLNSRC
CLNACC	RCV000020990.1,