rs61749750
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs61749750(-;-) |
Make rs61749750(-;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | X |
Position | 154031089 |
Gene | MECP2 |
is a | snp |
is | mentioned by |
dbSNP | rs61749750 |
dbSNP (classic) | rs61749750 |
ClinGen | rs61749750 |
ebi | rs61749750 |
HLI | rs61749750 |
Exac | rs61749750 |
Gnomad | rs61749750 |
Varsome | rs61749750 |
LitVar | rs61749750 |
Map | rs61749750 |
PheGenI | rs61749750 |
Biobank | rs61749750 |
1000 genomes | rs61749750 |
hgdp | rs61749750 |
ensembl | rs61749750 |
geneview | rs61749750 |
scholar | rs61749750 |
rs61749750 | |
pharmgkb | rs61749750 |
gwascentral | rs61749750 |
openSNP | rs61749750 |
23andMe | rs61749750 |
SNPshot | rs61749750 |
SNPdbe | rs61749750 |
MSV3d | rs61749750 |
GWAS Ctlg | rs61749750 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61749750(-;-) |
Alt | rs61749750(-;-) |
Reference | Rs61749750(G;G) |
Significance | Pathogenic |
Disease | Rett syndrome |
Variation | info |
Gene | MECP2 |
CLNDBN | Rett syndrome |
Reversed | 1 |
HGVS | NC_000023.10:g.153296540delC |
CLNSRC | |
CLNACC | RCV000133216.2, |