rs398122814
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AG;AG) | 0 | common in clinvar |
(GA;GA) | 0 | common in clinvar |
Make rs398122814(-;-) |
Make rs398122814(-;AG) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 154442421 |
Gene | FAM50A, GDI1 |
is a | snp |
is | mentioned by |
dbSNP | rs398122814 |
dbSNP (classic) | rs398122814 |
ClinGen | rs398122814 |
ebi | rs398122814 |
HLI | rs398122814 |
Exac | rs398122814 |
Gnomad | rs398122814 |
Varsome | rs398122814 |
LitVar | rs398122814 |
Map | rs398122814 |
PheGenI | rs398122814 |
Biobank | rs398122814 |
1000 genomes | rs398122814 |
hgdp | rs398122814 |
ensembl | rs398122814 |
geneview | rs398122814 |
scholar | rs398122814 |
rs398122814 | |
pharmgkb | rs398122814 |
gwascentral | rs398122814 |
openSNP | rs398122814 |
23andMe | rs398122814 |
SNPshot | rs398122814 |
SNPdbe | rs398122814 |
MSV3d | rs398122814 |
GWAS Ctlg | rs398122814 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398122814(-;-) |
Alt | rs398122814(-;-) |
Reference | Rs398122814(GA;GA) |
Significance | Pathogenic |
Disease | X-Linked Mental Retardation 41 |
Variation | info |
Gene | FAM50A GDI1 |
CLNDBN | X-Linked Mental Retardation 41 |
Reversed | 0 |
HGVS | NC_000023.10:g.153670768_153670769delAG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000022824.24, |