rs1060499672
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs1060499672(A;A) |
Make rs1060499672(A;C) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | X |
Position | 15852527 |
Gene | AP1S2 |
is a | snp |
is | mentioned by |
dbSNP | rs1060499672 |
dbSNP (classic) | rs1060499672 |
ClinGen | rs1060499672 |
ebi | rs1060499672 |
HLI | rs1060499672 |
Exac | rs1060499672 |
Gnomad | rs1060499672 |
Varsome | rs1060499672 |
LitVar | rs1060499672 |
Map | rs1060499672 |
PheGenI | rs1060499672 |
Biobank | rs1060499672 |
1000 genomes | rs1060499672 |
hgdp | rs1060499672 |
ensembl | rs1060499672 |
geneview | rs1060499672 |
scholar | rs1060499672 |
rs1060499672 | |
pharmgkb | rs1060499672 |
gwascentral | rs1060499672 |
openSNP | rs1060499672 |
23andMe | rs1060499672 |
SNPshot | rs1060499672 |
SNPdbe | rs1060499672 |
MSV3d | rs1060499672 |
GWAS Ctlg | rs1060499672 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060499672(A;A) |
Alt | rs1060499672(A;A) |
Reference | Rs1060499672(C;C) |
Significance | Pathogenic |
Disease | Pettigrew syndrome |
Variation | info |
Gene | AP1S2 |
CLNDBN | Pettigrew syndrome |
Reversed | 1 |
HGVS | NC_000023.10:g.15870650G>T |
CLNSRC | |
CLNACC | RCV000449627.1, |