rs1064792899
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCG;AGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCG) | 0 | common in clinvar |
Chromosome | X |
Position | 154030690 |
Gene | MECP2 |
is a | snp |
is | mentioned by |
dbSNP | rs1064792899 |
dbSNP (classic) | rs1064792899 |
ClinGen | rs1064792899 |
ebi | rs1064792899 |
HLI | rs1064792899 |
Exac | rs1064792899 |
Gnomad | rs1064792899 |
Varsome | rs1064792899 |
LitVar | rs1064792899 |
Map | rs1064792899 |
PheGenI | rs1064792899 |
Biobank | rs1064792899 |
1000 genomes | rs1064792899 |
hgdp | rs1064792899 |
ensembl | rs1064792899 |
geneview | rs1064792899 |
scholar | rs1064792899 |
rs1064792899 | |
pharmgkb | rs1064792899 |
gwascentral | rs1064792899 |
openSNP | rs1064792899 |
23andMe | rs1064792899 |
SNPshot | rs1064792899 |
SNPdbe | rs1064792899 |
MSV3d | rs1064792899 |
GWAS Ctlg | rs1064792899 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1064792899(-;-) |
Alt | rs1064792899(-;-) |
Reference | Rs1064792899(AGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCG;AGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCG) |
Significance | Probable-Pathogenic |
Disease | Rett syndrome |
Variation | info |
Gene | MECP2 |
CLNDBN | Rett syndrome |
Reversed | 1 |
HGVS | NC_000023.10:g.153296141_153296185del45 |
CLNSRC | |
CLNACC | RCV000445564.1, |