rs132630326

Orientation

minus

Stabilized

minus

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

Make rs132630326(G;T)

Make rs132630326(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

100408456

Gene

PCDH19

is a	snp
is	mentioned by
dbSNP	rs132630326
dbSNP (classic)	rs132630326
ClinGen	rs132630326
ebi	rs132630326
HLI	rs132630326
Exac	rs132630326
Gnomad	rs132630326
Varsome	rs132630326
LitVar	rs132630326
Map	rs132630326
PheGenI	rs132630326
Biobank	rs132630326
1000 genomes	rs132630326
hgdp	rs132630326
ensembl	rs132630326
geneview	rs132630326
scholar	rs132630326
google	rs132630326
pharmgkb	rs132630326
gwascentral	rs132630326
openSNP	rs132630326
23andMe	rs132630326
SNPshot	rs132630326
SNPdbe	rs132630326
MSV3d	rs132630326
GWAS Ctlg	rs132630326

Max Magnitude

0

OMIM	300460
Desc
Variant	0006
Related	also

ClinVar
Risk	rs132630326(T;T)
Alt	rs132630326(T;T)
Reference	Rs132630326(G;G)
Significance	Pathogenic
Disease	Early infantile epileptic encephalopathy 9
Variation	info
Gene	PCDH19
CLNDBN	Early infantile epileptic encephalopathy 9
Reversed	1
HGVS	NC_000023.10:g.99663454C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011767.6,