rs118192205

Orientation

minus

Stabilized

minus

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

Make rs118192205(C;T)

Make rs118192205(T;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

63442495

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs118192205
dbSNP (classic)	rs118192205
ClinGen	rs118192205
ebi	rs118192205
HLI	rs118192205
Exac	rs118192205
Gnomad	rs118192205
Varsome	rs118192205
LitVar	rs118192205
Map	rs118192205
PheGenI	rs118192205
Biobank	rs118192205
1000 genomes	rs118192205
hgdp	rs118192205
ensembl	rs118192205
geneview	rs118192205
scholar	rs118192205
google	rs118192205
pharmgkb	rs118192205
gwascentral	rs118192205
openSNP	rs118192205
23andMe	rs118192205
SNPshot	rs118192205
SNPdbe	rs118192205
MSV3d	rs118192205
GWAS Ctlg	rs118192205

Max Magnitude

0

ClinVar
Risk	rs118192205(T;T)
Alt	rs118192205(T;T)
Reference	Rs118192205(C;C)
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.62073848G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000021008.2,

OMIM	121200
Desc
Variant
Related	also