rs797045433
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AG;AG) | 0 | common in clinvar |
Make rs797045433(-;-) |
Make rs797045433(-;AG) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 41524008 |
Gene | CASK |
is a | snp |
is | mentioned by |
dbSNP | rs797045433 |
dbSNP (classic) | rs797045433 |
ClinGen | rs797045433 |
ebi | rs797045433 |
HLI | rs797045433 |
Exac | rs797045433 |
Gnomad | rs797045433 |
Varsome | rs797045433 |
LitVar | rs797045433 |
Map | rs797045433 |
PheGenI | rs797045433 |
Biobank | rs797045433 |
1000 genomes | rs797045433 |
hgdp | rs797045433 |
ensembl | rs797045433 |
geneview | rs797045433 |
scholar | rs797045433 |
rs797045433 | |
pharmgkb | rs797045433 |
gwascentral | rs797045433 |
openSNP | rs797045433 |
23andMe | rs797045433 |
SNPshot | rs797045433 |
SNPdbe | rs797045433 |
MSV3d | rs797045433 |
GWAS Ctlg | rs797045433 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797045433(-;-) |
Alt | rs797045433(-;-) |
Reference | Rs797045433(AG;AG) |
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.41383261_41383262delCT |
CLNSRC | |
CLNACC | RCV000194553.1, |