rs118192231

Orientation

minus

Stabilized

minus

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

Make rs118192231(-;GCCCT)

Make rs118192231(GCCCT;GCCCT)

Reference

GRCh38 38.1/141

Chromosome

20

Position

63413528

Gene	KCNQ2, LOC105372724

is a	snp
is	mentioned by
dbSNP	rs118192231
dbSNP (classic)	rs118192231
ClinGen	rs118192231
ebi	rs118192231
HLI	rs118192231
Exac	rs118192231
Gnomad	rs118192231
Varsome	rs118192231
LitVar	rs118192231
Map	rs118192231
PheGenI	rs118192231
Biobank	rs118192231
1000 genomes	rs118192231
hgdp	rs118192231
ensembl	rs118192231
geneview	rs118192231
scholar	rs118192231
google	rs118192231
pharmgkb	rs118192231
gwascentral	rs118192231
openSNP	rs118192231
23andMe	rs118192231
SNPshot	rs118192231
SNPdbe	rs118192231
MSV3d	rs118192231
GWAS Ctlg	rs118192231

Max Magnitude

0

OMIM	602235
Desc
Variant	0003
Related	also

ClinVar
Risk	rs118192231(GCCCT;GCCCT)
Alt	rs118192231(GCCCT;GCCCT)
Reference	Rs118192231(-;-)
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.62044882_62044886dupAGGGC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000415727.1,