rs61753972
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TC;TC) | 0 | common in clinvar |
Make rs61753972(-;-) |
Make rs61753972(-;TC) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | X |
Position | 154030519 |
Gene | MECP2 |
is a | snp |
is | mentioned by |
dbSNP | rs61753972 |
dbSNP (classic) | rs61753972 |
ClinGen | rs61753972 |
ebi | rs61753972 |
HLI | rs61753972 |
Exac | rs61753972 |
Gnomad | rs61753972 |
Varsome | rs61753972 |
LitVar | rs61753972 |
Map | rs61753972 |
PheGenI | rs61753972 |
Biobank | rs61753972 |
1000 genomes | rs61753972 |
hgdp | rs61753972 |
ensembl | rs61753972 |
geneview | rs61753972 |
scholar | rs61753972 |
rs61753972 | |
pharmgkb | rs61753972 |
gwascentral | rs61753972 |
openSNP | rs61753972 |
23andMe | rs61753972 |
SNPshot | rs61753972 |
SNPdbe | rs61753972 |
MSV3d | rs61753972 |
GWAS Ctlg | rs61753972 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61753972(-;-) |
Alt | rs61753972(-;-) |
Reference | Rs61753972(TC;TC) |
Significance | Pathogenic |
Disease | Rett syndrome |
Variation | info |
Gene | MECP2 |
CLNDBN | Rett syndrome |
Reversed | 1 |
HGVS | NC_000023.10:g.153295970_153295971delGA |
CLNSRC | |
CLNACC | RCV000132985.2, |