rs1060499621
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs1060499621(-;-) |
Make rs1060499621(-;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | X |
Position | 154031150 |
Gene | MECP2 |
is a | snp |
is | mentioned by |
dbSNP | rs1060499621 |
dbSNP (classic) | rs1060499621 |
ClinGen | rs1060499621 |
ebi | rs1060499621 |
HLI | rs1060499621 |
Exac | rs1060499621 |
Gnomad | rs1060499621 |
Varsome | rs1060499621 |
LitVar | rs1060499621 |
Map | rs1060499621 |
PheGenI | rs1060499621 |
Biobank | rs1060499621 |
1000 genomes | rs1060499621 |
hgdp | rs1060499621 |
ensembl | rs1060499621 |
geneview | rs1060499621 |
scholar | rs1060499621 |
rs1060499621 | |
pharmgkb | rs1060499621 |
gwascentral | rs1060499621 |
openSNP | rs1060499621 |
23andMe | rs1060499621 |
SNPshot | rs1060499621 |
SNPdbe | rs1060499621 |
MSV3d | rs1060499621 |
GWAS Ctlg | rs1060499621 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060499621(-;-) |
Alt | rs1060499621(-;-) |
Reference | Rs1060499621(T;T) |
Significance | Pathogenic |
Disease | Rett syndrome |
Variation | info |
Gene | MECP2 |
CLNDBN | Rett syndrome |
Reversed | 1 |
HGVS | NC_000023.10:g.153296601delA |
CLNSRC | |
CLNACC | RCV000445569.1, |