rs61751449
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs61751449(C;T) |
Make rs61751449(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 154030864 |
Gene | MECP2 |
is a | snp |
is | mentioned by |
dbSNP | rs61751449 |
dbSNP (classic) | rs61751449 |
ClinGen | rs61751449 |
ebi | rs61751449 |
HLI | rs61751449 |
Exac | rs61751449 |
Gnomad | rs61751449 |
Varsome | rs61751449 |
LitVar | rs61751449 |
Map | rs61751449 |
PheGenI | rs61751449 |
Biobank | rs61751449 |
1000 genomes | rs61751449 |
hgdp | rs61751449 |
ensembl | rs61751449 |
geneview | rs61751449 |
scholar | rs61751449 |
rs61751449 | |
pharmgkb | rs61751449 |
gwascentral | rs61751449 |
openSNP | rs61751449 |
23andMe | rs61751449 |
SNPshot | rs61751449 |
SNPdbe | rs61751449 |
MSV3d | rs61751449 |
GWAS Ctlg | rs61751449 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61751449(G;G) rs61751449(T;T) |
Alt | rs61751449(G;G) rs61751449(T;T) |
Reference | Rs61751449(C;C) |
Significance | Pathogenic |
Disease | Mental retardation Rett syndrome |
Variation | info |
Gene | MECP2 |
CLNDBN | Mental retardation, X-linked, syndromic 13 Rett syndrome |
Reversed | 1 |
HGVS | NC_000023.10:g.153296315G>A; NC_000023.10:g.153296315G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000012617.18, RCV000416315.1, RCV000169949.1, |