rs587776743
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs587776743(-;ACGAGG) |
Make rs587776743(ACGAGG;ACGAGG) |
Reference | GRCh38 38.1/142 |
Chromosome | X |
Position | 48685773 |
Gene | WAS |
is a | snp |
is | mentioned by |
dbSNP | rs587776743 |
dbSNP (classic) | rs587776743 |
ClinGen | rs587776743 |
ebi | rs587776743 |
HLI | rs587776743 |
Exac | rs587776743 |
Gnomad | rs587776743 |
Varsome | rs587776743 |
LitVar | rs587776743 |
Map | rs587776743 |
PheGenI | rs587776743 |
Biobank | rs587776743 |
1000 genomes | rs587776743 |
hgdp | rs587776743 |
ensembl | rs587776743 |
geneview | rs587776743 |
scholar | rs587776743 |
rs587776743 | |
pharmgkb | rs587776743 |
gwascentral | rs587776743 |
openSNP | rs587776743 |
23andMe | rs587776743 |
SNPshot | rs587776743 |
SNPdbe | rs587776743 |
MSV3d | rs587776743 |
GWAS Ctlg | rs587776743 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776743(GACGAG;GACGAG) |
Alt | rs587776743(GACGAG;GACGAG) |
Reference | Rs587776743(-;-) |
Significance | Pathogenic |
Disease | Wiskott-Aldrich syndrome |
Variation | info |
Gene | WAS |
CLNDBN | Wiskott-Aldrich syndrome |
Reversed | 0 |
HGVS | NC_000023.10:g.48544157_48544162dupACGAGG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000011870.6, |