rs111033612
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs111033612(A;A) |
Make rs111033612(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 25013000 |
Gene | ARX |
is a | snp |
is | mentioned by |
dbSNP | rs111033612 |
dbSNP (classic) | rs111033612 |
ClinGen | rs111033612 |
ebi | rs111033612 |
HLI | rs111033612 |
Exac | rs111033612 |
Gnomad | rs111033612 |
Varsome | rs111033612 |
LitVar | rs111033612 |
Map | rs111033612 |
PheGenI | rs111033612 |
Biobank | rs111033612 |
1000 genomes | rs111033612 |
hgdp | rs111033612 |
ensembl | rs111033612 |
geneview | rs111033612 |
scholar | rs111033612 |
rs111033612 | |
pharmgkb | rs111033612 |
gwascentral | rs111033612 |
openSNP | rs111033612 |
23andMe | rs111033612 |
SNPshot | rs111033612 |
SNPdbe | rs111033612 |
MSV3d | rs111033612 |
GWAS Ctlg | rs111033612 |
Merged from | Rs28936075 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs111033612(A;A) rs111033612(T;T) |
Alt | rs111033612(A;A) rs111033612(T;T) |
Reference | Rs111033612(G;G) |
Significance | Pathogenic |
Disease | Lissencephaly 2 not provided |
Variation | info |
Gene | ARX |
CLNDBN | Lissencephaly 2, X-linked not provided |
Reversed | 1 |
HGVS | NC_000023.10:g.25031117C>A; NC_000023.10:g.25031117C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000145065.1, RCV000011943.6, RCV000145064.1, |