rs118192185

Orientation

minus

Stabilized

minus

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

Make rs118192185(A;G)

Make rs118192185(G;G)

Reference

GRCh38 38.1/141

Chromosome

20

Position

63472463

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs118192185
dbSNP (classic)	rs118192185
ClinGen	rs118192185
ebi	rs118192185
HLI	rs118192185
Exac	rs118192185
Gnomad	rs118192185
Varsome	rs118192185
LitVar	rs118192185
Map	rs118192185
PheGenI	rs118192185
Biobank	rs118192185
1000 genomes	rs118192185
hgdp	rs118192185
ensembl	rs118192185
geneview	rs118192185
scholar	rs118192185
google	rs118192185
pharmgkb	rs118192185
gwascentral	rs118192185
openSNP	rs118192185
23andMe	rs118192185
SNPshot	rs118192185
SNPdbe	rs118192185
MSV3d	rs118192185
GWAS Ctlg	rs118192185

Max Magnitude

0

ClinVar
Risk	rs118192185(G;G)
Alt	rs118192185(G;G)
Reference	Rs118192185(A;A)
Significance	Pathogenic
Disease	Benign familial neonatal seizures 1 not provided
Variation	info
Gene	KCNQ2
CLNDBN	Benign familial neonatal seizures 1 not provided
Reversed	1
HGVS	NC_000020.10:g.62103816T>C
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020982.2, RCV000421973.1,

OMIM	121200
Desc
Variant
Related	also