rs267606933

Orientation

minus

Stabilized

minus

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

Make rs267606933(C;G)

Make rs267606933(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

100406927

Gene

PCDH19

is a	snp
is	mentioned by
dbSNP	rs267606933
dbSNP (classic)	rs267606933
ClinGen	rs267606933
ebi	rs267606933
HLI	rs267606933
Exac	rs267606933
Gnomad	rs267606933
Varsome	rs267606933
LitVar	rs267606933
Map	rs267606933
PheGenI	rs267606933
Biobank	rs267606933
1000 genomes	rs267606933
hgdp	rs267606933
ensembl	rs267606933
geneview	rs267606933
scholar	rs267606933
google	rs267606933
pharmgkb	rs267606933
gwascentral	rs267606933
openSNP	rs267606933
23andMe	rs267606933
SNPshot	rs267606933
SNPdbe	rs267606933
MSV3d	rs267606933
GWAS Ctlg	rs267606933

Max Magnitude

0

ClinVar
Risk	rs267606933(G;G)
Alt	rs267606933(G;G)
Reference	Rs267606933(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.99661925G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011769.7,