rs781050795
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs781050795(C;T) |
Make rs781050795(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 11576780 |
Gene | ACP5, ZNF627 |
is a | snp |
is | mentioned by |
dbSNP | rs781050795 |
dbSNP (classic) | rs781050795 |
ClinGen | rs781050795 |
ebi | rs781050795 |
HLI | rs781050795 |
Exac | rs781050795 |
Gnomad | rs781050795 |
Varsome | rs781050795 |
LitVar | rs781050795 |
Map | rs781050795 |
PheGenI | rs781050795 |
Biobank | rs781050795 |
1000 genomes | rs781050795 |
hgdp | rs781050795 |
ensembl | rs781050795 |
geneview | rs781050795 |
scholar | rs781050795 |
rs781050795 | |
pharmgkb | rs781050795 |
gwascentral | rs781050795 |
openSNP | rs781050795 |
23andMe | rs781050795 |
SNPshot | rs781050795 |
SNPdbe | rs781050795 |
MSV3d | rs781050795 |
GWAS Ctlg | rs781050795 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs781050795(T;T) |
Alt | rs781050795(T;T) |
Reference | Rs781050795(C;C) |
Significance | Pathogenic |
Disease | Spondyloenchondrodysplasia with immune dysregulation |
Variation | info |
Gene | ACP5 |
CLNDBN | Spondyloenchondrodysplasia with immune dysregulation |
Reversed | 0 |
HGVS | NC_000019.9:g.11687595C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000022709.22, |