rs587776738
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(I;I) | 0 | common genotype |
(TACA;TACA) | 0 | common in clinvar |
(TGTA;TGTA) | 0 | common in clinvar |
Make rs587776738(-;-) |
Make rs587776738(-;TGTA) |
Reference | GRCh38 38.1/142 |
Chromosome | X |
Position | 15846013 |
Gene | AP1S2 |
is a | snp |
is | mentioned by |
dbSNP | rs587776738 |
dbSNP (classic) | rs587776738 |
ClinGen | rs587776738 |
ebi | rs587776738 |
HLI | rs587776738 |
Exac | rs587776738 |
Gnomad | rs587776738 |
Varsome | rs587776738 |
LitVar | rs587776738 |
Map | rs587776738 |
PheGenI | rs587776738 |
Biobank | rs587776738 |
1000 genomes | rs587776738 |
hgdp | rs587776738 |
ensembl | rs587776738 |
geneview | rs587776738 |
scholar | rs587776738 |
rs587776738 | |
pharmgkb | rs587776738 |
gwascentral | rs587776738 |
openSNP | rs587776738 |
23andMe | rs587776738 |
SNPshot | rs587776738 |
SNPdbe | rs587776738 |
MSV3d | rs587776738 |
GWAS Ctlg | rs587776738 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs587776738(TGTA;TGTA) rs587776738(-;-) |
Alt | Rs587776738(TGTA;TGTA) rs587776738(-;-) |
Reference | Rs587776738(TACA;TACA) |
Significance | Pathogenic |
Disease | Pettigrew syndrome |
Variation | info |
Gene | AP1S2 |
CLNDBN | Pettigrew syndrome |
Reversed | 1 |
HGVS | NC_000023.10:g.15864136_15864139delTGTA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000011526.9, |