rs28935479
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs28935479(A;A) |
Make rs28935479(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 25013139 |
Gene | ARX |
is a | snp |
is | mentioned by |
dbSNP | rs28935479 |
dbSNP (classic) | rs28935479 |
ClinGen | rs28935479 |
ebi | rs28935479 |
HLI | rs28935479 |
Exac | rs28935479 |
Gnomad | rs28935479 |
Varsome | rs28935479 |
LitVar | rs28935479 |
Map | rs28935479 |
PheGenI | rs28935479 |
Biobank | rs28935479 |
1000 genomes | rs28935479 |
hgdp | rs28935479 |
ensembl | rs28935479 |
geneview | rs28935479 |
scholar | rs28935479 |
rs28935479 | |
pharmgkb | rs28935479 |
gwascentral | rs28935479 |
openSNP | rs28935479 |
23andMe | rs28935479 |
SNPshot | rs28935479 |
SNPdbe | rs28935479 |
MSV3d | rs28935479 |
GWAS Ctlg | rs28935479 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28935479(A;A) |
Alt | rs28935479(A;A) |
Reference | Rs28935479(G;G) |
Significance | Pathogenic |
Disease | Mental retardation not provided |
Variation | info |
Gene | ARX |
CLNDBN | Mental retardation, with or without seizures, ARX-related, X-linked not provided |
Reversed | 1 |
HGVS | NC_000023.10:g.25031256C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000011950.8, RCV000487519.1, |