rs179363900
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs179363900(C;G) |
Make rs179363900(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 154031374 |
Gene | MECP2 |
is a | snp |
is | mentioned by |
dbSNP | rs179363900 |
dbSNP (classic) | rs179363900 |
ClinGen | rs179363900 |
ebi | rs179363900 |
HLI | rs179363900 |
Exac | rs179363900 |
Gnomad | rs179363900 |
Varsome | rs179363900 |
LitVar | rs179363900 |
Map | rs179363900 |
PheGenI | rs179363900 |
Biobank | rs179363900 |
1000 genomes | rs179363900 |
hgdp | rs179363900 |
ensembl | rs179363900 |
geneview | rs179363900 |
scholar | rs179363900 |
rs179363900 | |
pharmgkb | rs179363900 |
gwascentral | rs179363900 |
openSNP | rs179363900 |
23andMe | rs179363900 |
SNPshot | rs179363900 |
SNPdbe | rs179363900 |
MSV3d | rs179363900 |
GWAS Ctlg | rs179363900 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs179363900(G;G) |
Alt | rs179363900(G;G) |
Reference | Rs179363900(C;C) |
Significance | Pathogenic |
Disease | Rett syndrome Mental retardation not provided |
Variation | info |
Gene | MECP2 |
CLNDBN | Rett syndrome, zappella variant Mental retardation, X-linked, syndromic 13 not provided |
Reversed | 1 |
HGVS | NC_000023.10:g.153296825G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000012618.24, RCV000133115.2, RCV000492792.1, |