rs672601302
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AGAAGAGC;AGAAGAGC) | 0 | common in clinvar |
Make rs672601302(AGAAGAGC;NNNNNNNNNNNNNNNNNN) |
Make rs672601302(NNNNNNNNNNNNNNNNNN;NNNNNNNNNNNNNNNNNN) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | X |
Position | 154030832 |
Gene | MECP2 |
is a | snp |
is | mentioned by |
dbSNP | rs672601302 |
dbSNP (classic) | rs672601302 |
ClinGen | rs672601302 |
ebi | rs672601302 |
HLI | rs672601302 |
Exac | rs672601302 |
Gnomad | rs672601302 |
Varsome | rs672601302 |
LitVar | rs672601302 |
Map | rs672601302 |
PheGenI | rs672601302 |
Biobank | rs672601302 |
1000 genomes | rs672601302 |
hgdp | rs672601302 |
ensembl | rs672601302 |
geneview | rs672601302 |
scholar | rs672601302 |
rs672601302 | |
pharmgkb | rs672601302 |
gwascentral | rs672601302 |
openSNP | rs672601302 |
23andMe | rs672601302 |
SNPshot | rs672601302 |
SNPdbe | rs672601302 |
MSV3d | rs672601302 |
GWAS Ctlg | rs672601302 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs672601302(NNNNNNNNNNNNNNNNNN;NNNNNNNNNNNNNNNNNN) |
Alt | rs672601302(NNNNNNNNNNNNNNNNNN;NNNNNNNNNNNNNNNNNN) |
Reference | Rs672601302(AGAAGAGC;AGAAGAGC) |
Significance | Pathogenic |
Disease | Rett syndrome |
Variation | info |
Gene | MECP2 |
CLNDBN | Rett syndrome |
Reversed | 1 |
HGVS | NC_000023.10:g.153296285_153296290delTCTTCTinsAAAGAGGAGAAGATGC |
CLNSRC | |
CLNACC | RCV000133306.2, |