rs104894741

Orientation

minus

Stabilized

minus

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

Make rs104894741(A;A)

Make rs104894741(A;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

25012967

Gene

ARX

is a	snp
is	mentioned by
dbSNP	rs104894741
dbSNP (classic)	rs104894741
ClinGen	rs104894741
ebi	rs104894741
HLI	rs104894741
Exac	rs104894741
Gnomad	rs104894741
Varsome	rs104894741
LitVar	rs104894741
Map	rs104894741
PheGenI	rs104894741
Biobank	rs104894741
1000 genomes	rs104894741
hgdp	rs104894741
ensembl	rs104894741
geneview	rs104894741
scholar	rs104894741
google	rs104894741
pharmgkb	rs104894741
gwascentral	rs104894741
openSNP	rs104894741
23andMe	rs104894741
SNPshot	rs104894741
SNPdbe	rs104894741
MSV3d	rs104894741
GWAS Ctlg	rs104894741

Merged from

Rs28936076

Max Magnitude

0

OMIM	300382
Desc
Variant	0012
Related	also

ClinVar
Risk	rs104894741(A;A)
Alt	rs104894741(A;A)
Reference	Rs104894741(T;T)
Significance	Pathogenic
Disease	Lissencephaly 2
Variation	info
Gene	ARX
CLNDBN	Lissencephaly 2, X-linked
Reversed	1
HGVS	NC_000023.10:g.25031084A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011948.18,