rs1057517705
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs1057517705(-;CATAGCC) |
Make rs1057517705(CATAGCC;CATAGCC) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | X |
Position | 25004759 |
Gene | ARX |
is a | snp |
is | mentioned by |
dbSNP | rs1057517705 |
dbSNP (classic) | rs1057517705 |
ClinGen | rs1057517705 |
ebi | rs1057517705 |
HLI | rs1057517705 |
Exac | rs1057517705 |
Gnomad | rs1057517705 |
Varsome | rs1057517705 |
LitVar | rs1057517705 |
Map | rs1057517705 |
PheGenI | rs1057517705 |
Biobank | rs1057517705 |
1000 genomes | rs1057517705 |
hgdp | rs1057517705 |
ensembl | rs1057517705 |
geneview | rs1057517705 |
scholar | rs1057517705 |
rs1057517705 | |
pharmgkb | rs1057517705 |
gwascentral | rs1057517705 |
openSNP | rs1057517705 |
23andMe | rs1057517705 |
SNPshot | rs1057517705 |
SNPdbe | rs1057517705 |
MSV3d | rs1057517705 |
GWAS Ctlg | rs1057517705 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057517705(CATAGCC;CATAGCC) |
Alt | rs1057517705(CATAGCC;CATAGCC) |
Reference | Rs1057517705(-;-) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | ARX |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000023.10:g.25022877_25022883dupGGCTATG |
CLNSRC | |
CLNACC | RCV000412797.1, |