rs797045290
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs797045290(-;CAAAG) |
Make rs797045290(CAAAG;CAAAG) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 25007394 |
Gene | ARX |
is a | snp |
is | mentioned by |
dbSNP | rs797045290 |
dbSNP (classic) | rs797045290 |
ClinGen | rs797045290 |
ebi | rs797045290 |
HLI | rs797045290 |
Exac | rs797045290 |
Gnomad | rs797045290 |
Varsome | rs797045290 |
LitVar | rs797045290 |
Map | rs797045290 |
PheGenI | rs797045290 |
Biobank | rs797045290 |
1000 genomes | rs797045290 |
hgdp | rs797045290 |
ensembl | rs797045290 |
geneview | rs797045290 |
scholar | rs797045290 |
rs797045290 | |
pharmgkb | rs797045290 |
gwascentral | rs797045290 |
openSNP | rs797045290 |
23andMe | rs797045290 |
SNPshot | rs797045290 |
SNPdbe | rs797045290 |
MSV3d | rs797045290 |
GWAS Ctlg | rs797045290 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797045290(CAAAG;CAAAG) |
Alt | rs797045290(CAAAG;CAAAG) |
Reference | Rs797045290(-;-) |
Significance | Pathogenic |
Disease | Lissencephaly 2 |
Variation | info |
Gene | ARX |
CLNDBN | Lissencephaly 2, X-linked |
Reversed | 1 |
HGVS | NC_000023.10:g.25025511_25025512insCTTTG |
CLNSRC | |
CLNACC | RCV000194939.1, |