rs104894785

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(G;G)	1	Miscall in LivingDNA data

Make rs104894785(C;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

111410134

Gene

DCX

is a	snp
is	mentioned by
dbSNP	rs104894785
dbSNP (classic)	rs104894785
ClinGen	rs104894785
ebi	rs104894785
HLI	rs104894785
Exac	rs104894785
Gnomad	rs104894785
Varsome	rs104894785
LitVar	rs104894785
Map	rs104894785
PheGenI	rs104894785
Biobank	rs104894785
1000 genomes	rs104894785
hgdp	rs104894785
ensembl	rs104894785
geneview	rs104894785
scholar	rs104894785
google	rs104894785
pharmgkb	rs104894785
gwascentral	rs104894785
openSNP	rs104894785
23andMe	rs104894785
SNPshot	rs104894785
SNPdbe	rs104894785
MSV3d	rs104894785
GWAS Ctlg	rs104894785

Max Magnitude

1

c.265C>G (p.Arg89Gly or R89G)

Note X-linkage

OMIM	300121
Desc
Variant	0012
Related	also

ClinVar
Risk	Rs104894785(G;G) rs104894785(T;T)
Alt	Rs104894785(G;G) rs104894785(T;T)
Reference	Rs104894785(C;C)
Significance	Pathogenic
Disease	Heterotopia Subcortical laminar heterotopia
Variation	info
Gene	DCX
CLNDBN	Heterotopia Subcortical laminar heterotopia, X-linked
Reversed	1
HGVS	NC_000023.10:g.110653362G>A; NC_000023.10:g.110653362G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000145825.1, RCV000012372.16,