rs797045303
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GC;GC) | 0 | common in clinvar |
Make rs797045303(GC;TA) |
Make rs797045303(TA;TA) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 25013432 |
Gene | ARX |
is a | snp |
is | mentioned by |
dbSNP | rs797045303 |
dbSNP (classic) | rs797045303 |
ClinGen | rs797045303 |
ebi | rs797045303 |
HLI | rs797045303 |
Exac | rs797045303 |
Gnomad | rs797045303 |
Varsome | rs797045303 |
LitVar | rs797045303 |
Map | rs797045303 |
PheGenI | rs797045303 |
Biobank | rs797045303 |
1000 genomes | rs797045303 |
hgdp | rs797045303 |
ensembl | rs797045303 |
geneview | rs797045303 |
scholar | rs797045303 |
rs797045303 | |
pharmgkb | rs797045303 |
gwascentral | rs797045303 |
openSNP | rs797045303 |
23andMe | rs797045303 |
SNPshot | rs797045303 |
SNPdbe | rs797045303 |
MSV3d | rs797045303 |
GWAS Ctlg | rs797045303 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797045303(TA;TA) |
Alt | rs797045303(TA;TA) |
Reference | Rs797045303(GC;GC) |
Significance | Pathogenic |
Disease | Lissencephaly 2 |
Variation | info |
Gene | ARX |
CLNDBN | Lissencephaly 2, X-linked |
Reversed | 1 |
HGVS | NC_000023.10:g.25031549_25031550delGCinsTA |
CLNSRC | |
CLNACC | RCV000192847.1, |