rs1057518555

Orientation

minus

Stabilized

minus

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

Make rs1057518555(C;C)

Make rs1057518555(C;G)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

63444708

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs1057518555
dbSNP (classic)	rs1057518555
ClinGen	rs1057518555
ebi	rs1057518555
HLI	rs1057518555
Exac	rs1057518555
Gnomad	rs1057518555
Varsome	rs1057518555
LitVar	rs1057518555
Map	rs1057518555
PheGenI	rs1057518555
Biobank	rs1057518555
1000 genomes	rs1057518555
hgdp	rs1057518555
ensembl	rs1057518555
geneview	rs1057518555
scholar	rs1057518555
google	rs1057518555
pharmgkb	rs1057518555
gwascentral	rs1057518555
openSNP	rs1057518555
23andMe	rs1057518555
SNPshot	rs1057518555
SNPdbe	rs1057518555
MSV3d	rs1057518555
GWAS Ctlg	rs1057518555

Max Magnitude

0

ClinVar
Risk	rs1057518555(C;C)
Alt	rs1057518555(C;C)
Reference	Rs1057518555(G;G)
Significance	Probable-Pathogenic
Disease	not provided
Variation	info
Gene	KCNQ2
CLNDBN	not provided
Reversed	1
HGVS	NC_000020.10:g.62076061C>G
CLNSRC
CLNACC	RCV000412970.1,