rs74315392

Orientation

minus

Stabilized

minus

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

Make rs74315392(C;G)

Make rs74315392(G;G)

Reference

GRCh38 38.1/141

Chromosome

20

Position

63442482

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs74315392
dbSNP (classic)	rs74315392
ClinGen	rs74315392
ebi	rs74315392
HLI	rs74315392
Exac	rs74315392
Gnomad	rs74315392
Varsome	rs74315392
LitVar	rs74315392
Map	rs74315392
PheGenI	rs74315392
Biobank	rs74315392
1000 genomes	rs74315392
hgdp	rs74315392
ensembl	rs74315392
geneview	rs74315392
scholar	rs74315392
google	rs74315392
pharmgkb	rs74315392
gwascentral	rs74315392
openSNP	rs74315392
23andMe	rs74315392
SNPshot	rs74315392
SNPdbe	rs74315392
MSV3d	rs74315392
GWAS Ctlg	rs74315392

Max Magnitude

0

OMIM	602235
Desc
Variant	0008
Related	also

ClinVar
Risk	rs74315392(A;A) rs74315392(G;G) rs74315392(T;T)
Alt	rs74315392(A;A) rs74315392(G;G) rs74315392(T;T)
Reference	Rs74315392(C;C)
Significance	Other
Disease	not provided Early infantile epileptic encephalopathy 7 Benign familial neonatal seizures 2 Benign familial neonatal seizures 1
Variation	info
Gene	KCNQ2
CLNDBN	not provided Early infantile epileptic encephalopathy 7 Benign familial neonatal seizures 2 Benign familial neonatal seizures 1
Reversed	1
HGVS	NC_000020.10:g.62073835G>A; NC_000020.10:g.62073835G>C; NC_000020.10:g.62073835G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000187872.2, RCV000030664.2, RCV000030675.2, RCV000021009.2,