rs587783184
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs587783184(A;A) |
Make rs587783184(A;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | X |
Position | 25007425 |
Gene | ARX |
is a | snp |
is | mentioned by |
dbSNP | rs587783184 |
dbSNP (classic) | rs587783184 |
ClinGen | rs587783184 |
ebi | rs587783184 |
HLI | rs587783184 |
Exac | rs587783184 |
Gnomad | rs587783184 |
Varsome | rs587783184 |
LitVar | rs587783184 |
Map | rs587783184 |
PheGenI | rs587783184 |
Biobank | rs587783184 |
1000 genomes | rs587783184 |
hgdp | rs587783184 |
ensembl | rs587783184 |
geneview | rs587783184 |
scholar | rs587783184 |
rs587783184 | |
pharmgkb | rs587783184 |
gwascentral | rs587783184 |
openSNP | rs587783184 |
23andMe | rs587783184 |
SNPshot | rs587783184 |
SNPdbe | rs587783184 |
MSV3d | rs587783184 |
GWAS Ctlg | rs587783184 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587783184(A;A) |
Alt | rs587783184(A;A) |
Reference | Rs587783184(C;C) |
Significance | Probable-Pathogenic |
Disease | Lissencephaly 2 |
Variation | info |
Gene | ARX |
CLNDBN | Lissencephaly 2, X-linked |
Reversed | 1 |
HGVS | NC_000023.10:g.25025542G>T |
CLNSRC | |
CLNACC | RCV000145040.1, |