rs756586058
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs756586058(-;G) |
Make rs756586058(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 54470714 |
Gene | FGD1 |
is a | snp |
is | mentioned by |
dbSNP | rs756586058 |
dbSNP (classic) | rs756586058 |
ClinGen | rs756586058 |
ebi | rs756586058 |
HLI | rs756586058 |
Exac | rs756586058 |
Gnomad | rs756586058 |
Varsome | rs756586058 |
LitVar | rs756586058 |
Map | rs756586058 |
PheGenI | rs756586058 |
Biobank | rs756586058 |
1000 genomes | rs756586058 |
hgdp | rs756586058 |
ensembl | rs756586058 |
geneview | rs756586058 |
scholar | rs756586058 |
rs756586058 | |
pharmgkb | rs756586058 |
gwascentral | rs756586058 |
openSNP | rs756586058 |
23andMe | rs756586058 |
SNPshot | rs756586058 |
SNPdbe | rs756586058 |
MSV3d | rs756586058 |
GWAS Ctlg | rs756586058 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs756586058(G;G) |
Alt | rs756586058(G;G) |
Reference | Rs756586058(-;-) |
Significance | Pathogenic |
Disease | Aarskog syndrome |
Variation | info |
Gene | FGD1 |
CLNDBN | Aarskog syndrome |
Reversed | 0 |
HGVS | NC_000023.10:g.54497148dupG |
CLNSRC | |
CLNACC | RCV000177205.1, |