rs132630323

Orientation

minus

Stabilized

minus

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

Make rs132630323(A;A)

Make rs132630323(A;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

100407276

Gene

PCDH19

is a	snp
is	mentioned by
dbSNP	rs132630323
dbSNP (classic)	rs132630323
ClinGen	rs132630323
ebi	rs132630323
HLI	rs132630323
Exac	rs132630323
Gnomad	rs132630323
Varsome	rs132630323
LitVar	rs132630323
Map	rs132630323
PheGenI	rs132630323
Biobank	rs132630323
1000 genomes	rs132630323
hgdp	rs132630323
ensembl	rs132630323
geneview	rs132630323
scholar	rs132630323
google	rs132630323
pharmgkb	rs132630323
gwascentral	rs132630323
openSNP	rs132630323
23andMe	rs132630323
SNPshot	rs132630323
SNPdbe	rs132630323
MSV3d	rs132630323
GWAS Ctlg	rs132630323

Max Magnitude

0

OMIM	300460
Desc
Variant	0002
Related	also

ClinVar
Risk	rs132630323(A;A)
Alt	rs132630323(A;A)
Reference	Rs132630323(T;T)
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.99662274A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011763.6,