rs61748408
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs61748408(C;G) |
Make rs61748408(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 154031360 |
Gene | MECP2 |
is a | snp |
is | mentioned by |
dbSNP | rs61748408 |
dbSNP (classic) | rs61748408 |
ClinGen | rs61748408 |
ebi | rs61748408 |
HLI | rs61748408 |
Exac | rs61748408 |
Gnomad | rs61748408 |
Varsome | rs61748408 |
LitVar | rs61748408 |
Map | rs61748408 |
PheGenI | rs61748408 |
Biobank | rs61748408 |
1000 genomes | rs61748408 |
hgdp | rs61748408 |
ensembl | rs61748408 |
geneview | rs61748408 |
scholar | rs61748408 |
rs61748408 | |
pharmgkb | rs61748408 |
gwascentral | rs61748408 |
openSNP | rs61748408 |
23andMe | rs61748408 |
SNPshot | rs61748408 |
SNPdbe | rs61748408 |
MSV3d | rs61748408 |
GWAS Ctlg | rs61748408 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61748408(A;A) rs61748408(G;G) rs61748408(T;T) |
Alt | rs61748408(A;A) rs61748408(G;G) rs61748408(T;T) |
Reference | Rs61748408(C;C) |
Significance | Pathogenic |
Disease | not provided Rett syndrome Mental retardation |
Variation | info |
Gene | MECP2 |
CLNDBN | not provided Rett syndrome Mental retardation, X-linked, syndromic 13 |
Reversed | 1 |
HGVS | NC_000023.10:g.153296811G>A; NC_000023.10:g.153296811G>C; NC_000023.10:g.153296811G>T |
CLNSRC | ClinVar Emory University GeneDx |
CLNACC | RCV000133122.1, RCV000081204.8, RCV000169946.5, RCV000178229.1, RCV000445574.1, |