rs193922677
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs193922677(A;A) |
Make rs193922677(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 154030501 |
Gene | MECP2 |
is a | snp |
is | mentioned by |
dbSNP | rs193922677 |
dbSNP (classic) | rs193922677 |
ClinGen | rs193922677 |
ebi | rs193922677 |
HLI | rs193922677 |
Exac | rs193922677 |
Gnomad | rs193922677 |
Varsome | rs193922677 |
LitVar | rs193922677 |
Map | rs193922677 |
PheGenI | rs193922677 |
Biobank | rs193922677 |
1000 genomes | rs193922677 |
hgdp | rs193922677 |
ensembl | rs193922677 |
geneview | rs193922677 |
scholar | rs193922677 |
rs193922677 | |
pharmgkb | rs193922677 |
gwascentral | rs193922677 |
openSNP | rs193922677 |
23andMe | rs193922677 |
SNPshot | rs193922677 |
SNPdbe | rs193922677 |
MSV3d | rs193922677 |
GWAS Ctlg | rs193922677 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs193922677(A;A) |
Alt | rs193922677(A;A) |
Reference | Rs193922677(G;G) |
Significance | Probable-non-pathogenic |
Disease | Rett syndrome Mental retardation not provided not specified |
Variation | info |
Gene | MECP2 |
CLNDBN | Rett syndrome Mental retardation, X-linked, syndromic 13 not provided not specified |
Reversed | 1 |
HGVS | NC_000023.10:g.153295952C>T |
CLNSRC | ClinVar LabCorp |
CLNACC | RCV000030163.1, RCV000170261.1, RCV000415982.1, RCV000438624.1, |