rs587776869
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs587776869(-;GCGGCGGCCGCGGCCGCGGCTGCCGCG) |
Make rs587776869(GCGGCGGCCGCGGCCGCGGCTGCCGCG;GCGGCGGCCGCGGCCGCGGCTGCCGCG) |
Reference | GRCh38 38.1/142 |
Chromosome | X |
Position | 25013560 |
Gene | ARX |
is a | snp |
is | mentioned by |
dbSNP | rs587776869 |
dbSNP (classic) | rs587776869 |
ClinGen | rs587776869 |
ebi | rs587776869 |
HLI | rs587776869 |
Exac | rs587776869 |
Gnomad | rs587776869 |
Varsome | rs587776869 |
LitVar | rs587776869 |
Map | rs587776869 |
PheGenI | rs587776869 |
Biobank | rs587776869 |
1000 genomes | rs587776869 |
hgdp | rs587776869 |
ensembl | rs587776869 |
geneview | rs587776869 |
scholar | rs587776869 |
rs587776869 | |
pharmgkb | rs587776869 |
gwascentral | rs587776869 |
openSNP | rs587776869 |
23andMe | rs587776869 |
SNPshot | rs587776869 |
SNPdbe | rs587776869 |
MSV3d | rs587776869 |
GWAS Ctlg | rs587776869 |
Merged from | Rs797045299 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776869(GCGGCGGCCGCGGCCGCGGCTGCCGCG;GCGGCGGCCGCGGCCGCGGCTGCCGCG) rs587776869(GCGGCGGCCGCGGCCGCGGCTGCCGCGGCGGCCCCT;GCGGCGGCCGCGGCCGCGGCTGCCGCGGCGGCCCCT) |
Alt | rs587776869(GCGGCGGCCGCGGCCGCGGCTGCCGCG;GCGGCGGCCGCGGCCGCGGCTGCCGCG) rs587776869(GCGGCGGCCGCGGCCGCGGCTGCCGCGGCGGCCCCT;GCGGCGGCCGCGGCCGCGGCTGCCGCGGCGGCCCCT) |
Reference | Rs587776869(-;-) |
Significance | Pathogenic |
Disease | Epileptic encephalopathy Lissencephaly 2 |
Variation | info |
Gene | ARX |
CLNDBN | Epileptic encephalopathy, early infantile, 1 Lissencephaly 2, X-linked |
Reversed | 0 |
HGVS | NC_000023.10:g.25031651_25031677dup27; NC_000023.10:g.25031651_25031686dup36 |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000022855.6, RCV000193636.1, |