rs587783191
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs587783191(-;-) |
Make rs587783191(-;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | X |
Position | 25004894 |
Gene | ARX |
is a | snp |
is | mentioned by |
dbSNP | rs587783191 |
dbSNP (classic) | rs587783191 |
ClinGen | rs587783191 |
ebi | rs587783191 |
HLI | rs587783191 |
Exac | rs587783191 |
Gnomad | rs587783191 |
Varsome | rs587783191 |
LitVar | rs587783191 |
Map | rs587783191 |
PheGenI | rs587783191 |
Biobank | rs587783191 |
1000 genomes | rs587783191 |
hgdp | rs587783191 |
ensembl | rs587783191 |
geneview | rs587783191 |
scholar | rs587783191 |
rs587783191 | |
pharmgkb | rs587783191 |
gwascentral | rs587783191 |
openSNP | rs587783191 |
23andMe | rs587783191 |
SNPshot | rs587783191 |
SNPdbe | rs587783191 |
MSV3d | rs587783191 |
GWAS Ctlg | rs587783191 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587783191(-;-) |
Alt | rs587783191(-;-) |
Reference | Rs587783191(G;G) |
Significance | Pathogenic |
Disease | Lissencephaly 2 |
Variation | info |
Gene | ARX |
CLNDBN | Lissencephaly 2, X-linked |
Reversed | 1 |
HGVS | NC_000023.10:g.25023011delC |
CLNSRC | |
CLNACC | RCV000145047.1, |