rs1064797104
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Chromosome | X |
Position | 154031053 |
is a | snp |
is | mentioned by |
dbSNP | rs1064797104 |
dbSNP (classic) | rs1064797104 |
ClinGen | rs1064797104 |
ebi | rs1064797104 |
HLI | rs1064797104 |
Exac | rs1064797104 |
Gnomad | rs1064797104 |
Varsome | rs1064797104 |
LitVar | rs1064797104 |
Map | rs1064797104 |
PheGenI | rs1064797104 |
Biobank | rs1064797104 |
1000 genomes | rs1064797104 |
hgdp | rs1064797104 |
ensembl | rs1064797104 |
geneview | rs1064797104 |
scholar | rs1064797104 |
rs1064797104 | |
pharmgkb | rs1064797104 |
gwascentral | rs1064797104 |
openSNP | rs1064797104 |
23andMe | rs1064797104 |
SNPshot | rs1064797104 |
SNPdbe | rs1064797104 |
MSV3d | rs1064797104 |
GWAS Ctlg | rs1064797104 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1064797104(CCCCGGCAGGAAGCGAAAAGCTGAG;CCCCGGCAGGAAGCGAAAAGCTGAG) |
Alt | rs1064797104(CCCCGGCAGGAAGCGAAAAGCTGAG;CCCCGGCAGGAAGCGAAAAGCTGAG) |
Reference | Rs1064797104(-;-) |
Significance | Pathogenic |
Disease | Rett syndrome |
Variation | info |
Gene | |
CLNDBN | Rett syndrome |
Reversed | 1 |
HGVS | NC_000023.10:g.153296505_153296529dup |
CLNSRC | |
CLNACC | RCV000488216.1, |