rs1057518772

Orientation

minus

Stabilized

minus

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

Make rs1057518772(G;G)

Make rs1057518772(G;T)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

63433860

Gene	KCNQ2, LOC105372721

is a	snp
is	mentioned by
dbSNP	rs1057518772
dbSNP (classic)	rs1057518772
ClinGen	rs1057518772
ebi	rs1057518772
HLI	rs1057518772
Exac	rs1057518772
Gnomad	rs1057518772
Varsome	rs1057518772
LitVar	rs1057518772
Map	rs1057518772
PheGenI	rs1057518772
Biobank	rs1057518772
1000 genomes	rs1057518772
hgdp	rs1057518772
ensembl	rs1057518772
geneview	rs1057518772
scholar	rs1057518772
google	rs1057518772
pharmgkb	rs1057518772
gwascentral	rs1057518772
openSNP	rs1057518772
23andMe	rs1057518772
SNPshot	rs1057518772
SNPdbe	rs1057518772
MSV3d	rs1057518772
GWAS Ctlg	rs1057518772

Max Magnitude

0

ClinVar
Risk	rs1057518772(C;C) rs1057518772(G;G)
Alt	rs1057518772(C;C) rs1057518772(G;G)
Reference	Rs1057518772(T;T)
Significance	Probable-Pathogenic
Disease	Intellectual disability not provided
Variation	info
Gene	KCNQ2
CLNDBN	Intellectual disability not provided
Reversed	1
HGVS	NC_000020.10:g.62065213A>C; NC_000020.10:g.62065213A>G
CLNSRC
CLNACC	RCV000415407.1, RCV000478321.1,