rs797045299
From SNPedia
Merged into | rs587776869 |
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs797045299(-;AGGGGCCGCCGCGGCAGCCGCGGCCGCGGCCGCCGC) |
Make rs797045299(AGGGGCCGCCGCGGCAGCCGCGGCCGCGGCCGCCGC;AGGGGCCGCCGCGGCAGCCGCGGCCGCGGCCGCCGC) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 25013533 |
Gene | ARX |
is a | snp |
is | mentioned by |
dbSNP | rs797045299 |
dbSNP (classic) | rs797045299 |
ClinGen | rs797045299 |
ebi | rs797045299 |
HLI | rs797045299 |
Exac | rs797045299 |
Gnomad | rs797045299 |
Varsome | rs797045299 |
LitVar | rs797045299 |
Map | rs797045299 |
PheGenI | rs797045299 |
Biobank | rs797045299 |
1000 genomes | rs797045299 |
hgdp | rs797045299 |
ensembl | rs797045299 |
geneview | rs797045299 |
scholar | rs797045299 |
rs797045299 | |
pharmgkb | rs797045299 |
gwascentral | rs797045299 |
openSNP | rs797045299 |
23andMe | rs797045299 |
SNPshot | rs797045299 |
SNPdbe | rs797045299 |
MSV3d | rs797045299 |
GWAS Ctlg | rs797045299 |
Status | Merged into rs587776869 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797045299(AGGGGCCGCCGCGGCAGCCGCGGCCGCGGCCGCCGC;AGGGGCCGCCGCGGCAGCCGCGGCCGCGGCCGCCGC) |
Alt | rs797045299(AGGGGCCGCCGCGGCAGCCGCGGCCGCGGCCGCCGC;AGGGGCCGCCGCGGCAGCCGCGGCCGCGGCCGCCGC) |
Reference | Rs797045299(;) |
Significance | Probable-Pathogenic |
Disease | Lissencephaly 2 |
Variation | info |
Gene | ARX |
CLNDBN | Lissencephaly 2, X-linked |
Reversed | 1 |
HGVS | NC_000023.10:g.25031651_25031686dup36 |
CLNSRC | |
CLNACC | RCV000193636.1, |