rs730880275

Orientation

plus

Stabilized

plus

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

Make rs730880275(-;-)

Make rs730880275(-;G)

Reference

GRCh38.p2 38.2/144

Chromosome

7

Position

148383882

Gene	CNTNAP2, LOC105375554

is a	snp
is	mentioned by
dbSNP	rs730880275
dbSNP (classic)	rs730880275
ClinGen	rs730880275
ebi	rs730880275
HLI	rs730880275
Exac	rs730880275
Gnomad	rs730880275
Varsome	rs730880275
LitVar	rs730880275
Map	rs730880275
PheGenI	rs730880275
Biobank	rs730880275
1000 genomes	rs730880275
hgdp	rs730880275
ensembl	rs730880275
geneview	rs730880275
scholar	rs730880275
google	rs730880275
pharmgkb	rs730880275
gwascentral	rs730880275
openSNP	rs730880275
23andMe	rs730880275
SNPshot	rs730880275
SNPdbe	rs730880275
MSV3d	rs730880275
GWAS Ctlg	rs730880275

Max Magnitude

0

ClinVar
Risk	rs730880275(-;-)
Alt	rs730880275(-;-)
Reference	Rs730880275(G;G)
Significance	Pathogenic
Disease	Cortical dysplasia-focal epilepsy syndrome not provided
Variation	info
Gene	CNTNAP2
CLNDBN	Cortical dysplasia-focal epilepsy syndrome not provided
Reversed	0
HGVS	NC_000007.13:g.148080974delG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005825.3, RCV000255180.1,