rs61750241
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs61750241(-;-) |
Make rs61750241(-;G) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 154031022 |
Gene | MECP2 |
is a | snp |
is | mentioned by |
dbSNP | rs61750241 |
dbSNP (classic) | rs61750241 |
ClinGen | rs61750241 |
ebi | rs61750241 |
HLI | rs61750241 |
Exac | rs61750241 |
Gnomad | rs61750241 |
Varsome | rs61750241 |
LitVar | rs61750241 |
Map | rs61750241 |
PheGenI | rs61750241 |
Biobank | rs61750241 |
1000 genomes | rs61750241 |
hgdp | rs61750241 |
ensembl | rs61750241 |
geneview | rs61750241 |
scholar | rs61750241 |
rs61750241 | |
pharmgkb | rs61750241 |
gwascentral | rs61750241 |
openSNP | rs61750241 |
23andMe | rs61750241 |
SNPshot | rs61750241 |
SNPdbe | rs61750241 |
MSV3d | rs61750241 |
GWAS Ctlg | rs61750241 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61750241(-;-) |
Alt | rs61750241(-;-) |
Reference | Rs61750241(G;G) |
Significance | Pathogenic |
Disease | not provided Rett syndrome Severe neonatal-onset encephalopathy with microcephaly Mental retardation Angelman syndrome |
Variation | info |
Gene | MECP2 |
CLNDBN | not provided Rett syndrome Severe neonatal-onset encephalopathy with microcephaly Mental retardation, X-linked, syndromic 13 Angelman syndrome |
Reversed | 1 |
HGVS | NC_000023.10:g.153296473delC |
CLNSRC | HGMD |
CLNACC | RCV000081211.8, RCV000168691.6, RCV000169939.1, RCV000170113.2, RCV000466633.1, |