rs730882185
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs730882185(G;T) |
Make rs730882185(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | X |
Position | 80692088 |
Gene | BRWD3 |
is a | snp |
is | mentioned by |
dbSNP | rs730882185 |
dbSNP (classic) | rs730882185 |
ClinGen | rs730882185 |
ebi | rs730882185 |
HLI | rs730882185 |
Exac | rs730882185 |
Gnomad | rs730882185 |
Varsome | rs730882185 |
LitVar | rs730882185 |
Map | rs730882185 |
PheGenI | rs730882185 |
Biobank | rs730882185 |
1000 genomes | rs730882185 |
hgdp | rs730882185 |
ensembl | rs730882185 |
geneview | rs730882185 |
scholar | rs730882185 |
rs730882185 | |
pharmgkb | rs730882185 |
gwascentral | rs730882185 |
openSNP | rs730882185 |
23andMe | rs730882185 |
SNPshot | rs730882185 |
SNPdbe | rs730882185 |
MSV3d | rs730882185 |
GWAS Ctlg | rs730882185 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730882185(T;T) |
Alt | rs730882185(T;T) |
Reference | Rs730882185(G;G) |
Significance | Pathogenic |
Disease | Mental retardation |
Variation | info |
Gene | BRWD3 |
CLNDBN | Mental retardation, X-linked 93 |
Reversed | 1 |
HGVS | NC_000023.10:g.79947587C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000011549.5, |