rs118192235

Orientation

minus

Stabilized

minus

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

Make rs118192235(A;A)

Make rs118192235(A;G)

Reference

GRCh38 38.1/141

Chromosome

20

Position

63413471

Gene	KCNQ2, LOC105372724

is a	snp
is	mentioned by
dbSNP	rs118192235
dbSNP (classic)	rs118192235
ClinGen	rs118192235
ebi	rs118192235
HLI	rs118192235
Exac	rs118192235
Gnomad	rs118192235
Varsome	rs118192235
LitVar	rs118192235
Map	rs118192235
PheGenI	rs118192235
Biobank	rs118192235
1000 genomes	rs118192235
hgdp	rs118192235
ensembl	rs118192235
geneview	rs118192235
scholar	rs118192235
google	rs118192235
pharmgkb	rs118192235
gwascentral	rs118192235
openSNP	rs118192235
23andMe	rs118192235
SNPshot	rs118192235
SNPdbe	rs118192235
MSV3d	rs118192235
GWAS Ctlg	rs118192235

Max Magnitude

0

ClinVar
Risk	rs118192235(A;A) rs118192235(T;T)
Alt	rs118192235(A;A) rs118192235(T;T)
Reference	Rs118192235(G;G)
Significance	Pathogenic
Disease	not provided Benign familial neonatal seizures 1 Epileptic encephalopathy
Variation	info
Gene	KCNQ2
CLNDBN	not provided Benign familial neonatal seizures 1 Epileptic encephalopathy
Reversed	1
HGVS	NC_000020.10:g.62044824C>A; NC_000020.10:g.62044824C>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000187922.2, RCV000020977.1, RCV000187921.1, RCV000416983.1,

OMIM	121200
Desc
Variant
Related	also