rs587783189
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs587783189(C;T) |
Make rs587783189(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | X |
Position | 25007145 |
Gene | ARX |
is a | snp |
is | mentioned by |
dbSNP | rs587783189 |
dbSNP (classic) | rs587783189 |
ClinGen | rs587783189 |
ebi | rs587783189 |
HLI | rs587783189 |
Exac | rs587783189 |
Gnomad | rs587783189 |
Varsome | rs587783189 |
LitVar | rs587783189 |
Map | rs587783189 |
PheGenI | rs587783189 |
Biobank | rs587783189 |
1000 genomes | rs587783189 |
hgdp | rs587783189 |
ensembl | rs587783189 |
geneview | rs587783189 |
scholar | rs587783189 |
rs587783189 | |
pharmgkb | rs587783189 |
gwascentral | rs587783189 |
openSNP | rs587783189 |
23andMe | rs587783189 |
SNPshot | rs587783189 |
SNPdbe | rs587783189 |
MSV3d | rs587783189 |
GWAS Ctlg | rs587783189 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587783189(T;T) |
Alt | rs587783189(T;T) |
Reference | Rs587783189(C;C) |
Significance | Pathogenic |
Disease | Lissencephaly 2 |
Variation | info |
Gene | ARX |
CLNDBN | Lissencephaly 2, X-linked |
Reversed | 1 |
HGVS | NC_000023.10:g.25025262G>A |
CLNSRC | |
CLNACC | RCV000145045.1, |