rs61749743
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs61749743(-;-) |
Make rs61749743(-;G) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 154031118 |
Gene | MECP2 |
is a | snp |
is | mentioned by |
dbSNP | rs61749743 |
dbSNP (classic) | rs61749743 |
ClinGen | rs61749743 |
ebi | rs61749743 |
HLI | rs61749743 |
Exac | rs61749743 |
Gnomad | rs61749743 |
Varsome | rs61749743 |
LitVar | rs61749743 |
Map | rs61749743 |
PheGenI | rs61749743 |
Biobank | rs61749743 |
1000 genomes | rs61749743 |
hgdp | rs61749743 |
ensembl | rs61749743 |
geneview | rs61749743 |
scholar | rs61749743 |
rs61749743 | |
pharmgkb | rs61749743 |
gwascentral | rs61749743 |
openSNP | rs61749743 |
23andMe | rs61749743 |
SNPshot | rs61749743 |
SNPdbe | rs61749743 |
MSV3d | rs61749743 |
GWAS Ctlg | rs61749743 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61749743(-;-) |
Alt | rs61749743(-;-) |
Reference | Rs61749743(G;G) |
Significance | Pathogenic |
Disease | Rett syndrome |
Variation | info |
Gene | MECP2 |
CLNDBN | Rett syndrome |
Reversed | 1 |
HGVS | NC_000023.10:g.153296569delC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000012620.25, |