rs267607189
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs267607189(A;A) |
Make rs267607189(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 53250303 |
Gene | IQSEC2 |
is a | snp |
is | mentioned by |
dbSNP | rs267607189 |
dbSNP (classic) | rs267607189 |
ClinGen | rs267607189 |
ebi | rs267607189 |
HLI | rs267607189 |
Exac | rs267607189 |
Gnomad | rs267607189 |
Varsome | rs267607189 |
LitVar | rs267607189 |
Map | rs267607189 |
PheGenI | rs267607189 |
Biobank | rs267607189 |
1000 genomes | rs267607189 |
hgdp | rs267607189 |
ensembl | rs267607189 |
geneview | rs267607189 |
scholar | rs267607189 |
rs267607189 | |
pharmgkb | rs267607189 |
gwascentral | rs267607189 |
openSNP | rs267607189 |
23andMe | rs267607189 |
SNPshot | rs267607189 |
SNPdbe | rs267607189 |
MSV3d | rs267607189 |
GWAS Ctlg | rs267607189 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267607189(A;A) |
Alt | rs267607189(A;A) |
Reference | Rs267607189(G;G) |
Significance | Pathogenic |
Disease | Mental retardation |
Variation | info |
Gene | IQSEC2 |
CLNDBN | Mental retardation, X-linked 1 |
Reversed | 1 |
HGVS | NC_000023.10:g.53279485C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000011611.4, |