rs587783368
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs587783368(A;A) |
Make rs587783368(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | X |
Position | 41665276 |
Gene | CASK |
is a | snp |
is | mentioned by |
dbSNP | rs587783368 |
dbSNP (classic) | rs587783368 |
ClinGen | rs587783368 |
ebi | rs587783368 |
HLI | rs587783368 |
Exac | rs587783368 |
Gnomad | rs587783368 |
Varsome | rs587783368 |
LitVar | rs587783368 |
Map | rs587783368 |
PheGenI | rs587783368 |
Biobank | rs587783368 |
1000 genomes | rs587783368 |
hgdp | rs587783368 |
ensembl | rs587783368 |
geneview | rs587783368 |
scholar | rs587783368 |
rs587783368 | |
pharmgkb | rs587783368 |
gwascentral | rs587783368 |
openSNP | rs587783368 |
23andMe | rs587783368 |
SNPshot | rs587783368 |
SNPdbe | rs587783368 |
MSV3d | rs587783368 |
GWAS Ctlg | rs587783368 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587783368(A;A) |
Alt | rs587783368(A;A) |
Reference | Rs587783368(G;G) |
Significance | Pathogenic |
Disease | Mental retardation and microcephaly with pontine and cerebellar hypoplasia |
Variation | info |
Gene | CASK |
CLNDBN | Mental retardation and microcephaly with pontine and cerebellar hypoplasia |
Reversed | 1 |
HGVS | NC_000023.10:g.41524529C>T |
CLNSRC | |
CLNACC | RCV000145411.1, |