rs35993949

Orientation

plus

Stabilized

plus

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

Make rs35993949(C;C)

Make rs35993949(C;G)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

67506804

Gene

CPA6

is a	snp
is	mentioned by
dbSNP	rs35993949
dbSNP (classic)	rs35993949
ClinGen	rs35993949
ebi	rs35993949
HLI	rs35993949
Exac	rs35993949
Gnomad	rs35993949
Varsome	rs35993949
LitVar	rs35993949
Map	rs35993949
PheGenI	rs35993949
Biobank	rs35993949
1000 genomes	rs35993949
hgdp	rs35993949
ensembl	rs35993949
geneview	rs35993949
scholar	rs35993949
google	rs35993949
pharmgkb	rs35993949
gwascentral	rs35993949
openSNP	rs35993949
23andMe	rs35993949
SNPshot	rs35993949
SNPdbe	rs35993949
MSV3d	rs35993949
GWAS Ctlg	rs35993949

Max Magnitude

0

ClinVar
Risk	rs35993949(C;C)
Alt	rs35993949(C;C)
Reference	Rs35993949(G;G)
Significance	Pathogenic
Disease	Epilepsy Global developmental delay not specified
Variation	info
Gene	CPA6
CLNDBN	Epilepsy, familial temporal lobe, 5 Global developmental delay not specified
Reversed	0
HGVS	NC_000008.10:g.68419039G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000445558.1, RCV000449549.1, RCV000492928.1,