rs28935497
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs28935497(A;A) |
Make rs28935497(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 54456233 |
Gene | FGD1 |
is a | snp |
is | mentioned by |
dbSNP | rs28935497 |
dbSNP (classic) | rs28935497 |
ClinGen | rs28935497 |
ebi | rs28935497 |
HLI | rs28935497 |
Exac | rs28935497 |
Gnomad | rs28935497 |
Varsome | rs28935497 |
LitVar | rs28935497 |
Map | rs28935497 |
PheGenI | rs28935497 |
Biobank | rs28935497 |
1000 genomes | rs28935497 |
hgdp | rs28935497 |
ensembl | rs28935497 |
geneview | rs28935497 |
scholar | rs28935497 |
rs28935497 | |
pharmgkb | rs28935497 |
gwascentral | rs28935497 |
openSNP | rs28935497 |
23andMe | rs28935497 |
SNPshot | rs28935497 |
SNPdbe | rs28935497 |
MSV3d | rs28935497 |
GWAS Ctlg | rs28935497 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28935497(A;A) |
Alt | rs28935497(A;A) |
Reference | Rs28935497(G;G) |
Significance | Pathogenic |
Disease | Aarskog syndrome not provided |
Variation | info |
Gene | FGD1 |
CLNDBN | Aarskog syndrome not provided |
Reversed | 1 |
HGVS | NC_000023.10:g.54482666C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000011572.4, RCV000309625.1, |