rs104894745

Orientation

minus

Stabilized

minus

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

Make rs104894745(A;A)

Make rs104894745(A;C)

Reference

GRCh38 38.1/141

Chromosome

X

Position

25012997

Gene

ARX

is a	snp
is	mentioned by
dbSNP	rs104894745
dbSNP (classic)	rs104894745
ClinGen	rs104894745
ebi	rs104894745
HLI	rs104894745
Exac	rs104894745
Gnomad	rs104894745
Varsome	rs104894745
LitVar	rs104894745
Map	rs104894745
PheGenI	rs104894745
Biobank	rs104894745
1000 genomes	rs104894745
hgdp	rs104894745
ensembl	rs104894745
geneview	rs104894745
scholar	rs104894745
google	rs104894745
pharmgkb	rs104894745
gwascentral	rs104894745
openSNP	rs104894745
23andMe	rs104894745
SNPshot	rs104894745
SNPdbe	rs104894745
MSV3d	rs104894745
GWAS Ctlg	rs104894745

Merged from

Rs28936078

Max Magnitude

0

OMIM	300382
Desc
Variant	0015
Related	also

ClinVar
Risk	rs104894745(A;A) rs104894745(G;G)
Alt	rs104894745(A;A) rs104894745(G;G)
Reference	Rs104894745(C;C)
Significance	Pathogenic
Disease	Epileptic encephalopathy Proud Levine Carpenter syndrome not provided
Variation	info
Gene	ARX
CLNDBN	epileptic encephalopathy, early infanitle, 1 Proud Levine Carpenter syndrome not provided
Reversed	1
HGVS	NC_000023.10:g.25031114G>C; NC_000023.10:g.25031114G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000145067.1, RCV000011951.8, RCV000145066.1,