rs1060499620
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs1060499620(-;AG) |
Make rs1060499620(AG;AG) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | X |
Position | 154030803 |
Gene | MECP2 |
is a | snp |
is | mentioned by |
dbSNP | rs1060499620 |
dbSNP (classic) | rs1060499620 |
ClinGen | rs1060499620 |
ebi | rs1060499620 |
HLI | rs1060499620 |
Exac | rs1060499620 |
Gnomad | rs1060499620 |
Varsome | rs1060499620 |
LitVar | rs1060499620 |
Map | rs1060499620 |
PheGenI | rs1060499620 |
Biobank | rs1060499620 |
1000 genomes | rs1060499620 |
hgdp | rs1060499620 |
ensembl | rs1060499620 |
geneview | rs1060499620 |
scholar | rs1060499620 |
rs1060499620 | |
pharmgkb | rs1060499620 |
gwascentral | rs1060499620 |
openSNP | rs1060499620 |
23andMe | rs1060499620 |
SNPshot | rs1060499620 |
SNPdbe | rs1060499620 |
MSV3d | rs1060499620 |
GWAS Ctlg | rs1060499620 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060499620(AG;AG) |
Alt | rs1060499620(AG;AG) |
Reference | Rs1060499620(-;-) |
Significance | Pathogenic |
Disease | Rett syndrome |
Variation | info |
Gene | MECP2 |
CLNDBN | Rett syndrome |
Reversed | 1 |
HGVS | NC_000023.10:g.153296254_153296255insCT |
CLNSRC | |
CLNACC | RCV000445567.1, |