rs1057518619

Orientation

minus

Stabilized

minus

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

Make rs1057518619(C;C)

Make rs1057518619(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

63438713

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs1057518619
dbSNP (classic)	rs1057518619
ClinGen	rs1057518619
ebi	rs1057518619
HLI	rs1057518619
Exac	rs1057518619
Gnomad	rs1057518619
Varsome	rs1057518619
LitVar	rs1057518619
Map	rs1057518619
PheGenI	rs1057518619
Biobank	rs1057518619
1000 genomes	rs1057518619
hgdp	rs1057518619
ensembl	rs1057518619
geneview	rs1057518619
scholar	rs1057518619
google	rs1057518619
pharmgkb	rs1057518619
gwascentral	rs1057518619
openSNP	rs1057518619
23andMe	rs1057518619
SNPshot	rs1057518619
SNPdbe	rs1057518619
MSV3d	rs1057518619
GWAS Ctlg	rs1057518619

Max Magnitude

0

ClinVar
Risk	rs1057518619(C;C)
Alt	rs1057518619(C;C)
Reference	Rs1057518619(T;T)
Significance	Probable-Pathogenic
Disease	not provided
Variation	info
Gene	KCNQ2
CLNDBN	not provided
Reversed	1
HGVS	NC_000020.10:g.62070066A>G
CLNSRC
CLNACC	RCV000413460.1,