rs61751364
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CGATC;CGATC) | 0 | common in clinvar |
Make rs61751364(-;-) |
Make rs61751364(-;CGATC) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | X |
Position | 154030944 |
Gene | MECP2 |
is a | snp |
is | mentioned by |
dbSNP | rs61751364 |
dbSNP (classic) | rs61751364 |
ClinGen | rs61751364 |
ebi | rs61751364 |
HLI | rs61751364 |
Exac | rs61751364 |
Gnomad | rs61751364 |
Varsome | rs61751364 |
LitVar | rs61751364 |
Map | rs61751364 |
PheGenI | rs61751364 |
Biobank | rs61751364 |
1000 genomes | rs61751364 |
hgdp | rs61751364 |
ensembl | rs61751364 |
geneview | rs61751364 |
scholar | rs61751364 |
rs61751364 | |
pharmgkb | rs61751364 |
gwascentral | rs61751364 |
openSNP | rs61751364 |
23andMe | rs61751364 |
SNPshot | rs61751364 |
SNPdbe | rs61751364 |
MSV3d | rs61751364 |
GWAS Ctlg | rs61751364 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61751364(-;-) |
Alt | rs61751364(-;-) |
Reference | Rs61751364(CGATC;CGATC) |
Significance | Pathogenic |
Disease | Rett syndrome |
Variation | info |
Gene | MECP2 |
CLNDBN | Rett syndrome |
Reversed | 1 |
HGVS | NC_000023.10:g.153296395_153296399delGATCG |
CLNSRC | |
CLNACC | RCV000133265.2, |