rs132630324

Orientation

minus

Stabilized

minus

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

Make rs132630324(C;T)

Make rs132630324(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

100408345

Gene

PCDH19

is a	snp
is	mentioned by
dbSNP	rs132630324
dbSNP (classic)	rs132630324
ClinGen	rs132630324
ebi	rs132630324
HLI	rs132630324
Exac	rs132630324
Gnomad	rs132630324
Varsome	rs132630324
LitVar	rs132630324
Map	rs132630324
PheGenI	rs132630324
Biobank	rs132630324
1000 genomes	rs132630324
hgdp	rs132630324
ensembl	rs132630324
geneview	rs132630324
scholar	rs132630324
google	rs132630324
pharmgkb	rs132630324
gwascentral	rs132630324
openSNP	rs132630324
23andMe	rs132630324
SNPshot	rs132630324
SNPdbe	rs132630324
MSV3d	rs132630324
GWAS Ctlg	rs132630324

Max Magnitude

0

OMIM	300460
Desc
Variant	0003
Related	also

ClinVar
Risk	rs132630324(T;T)
Alt	rs132630324(T;T)
Reference	Rs132630324(C;C)
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.99663343G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011764.10,