rs104894735
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs104894735(C;T) |
Make rs104894735(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 15852371 |
Gene | AP1S2 |
is a | snp |
is | mentioned by |
dbSNP | rs104894735 |
dbSNP (classic) | rs104894735 |
ClinGen | rs104894735 |
ebi | rs104894735 |
HLI | rs104894735 |
Exac | rs104894735 |
Gnomad | rs104894735 |
Varsome | rs104894735 |
LitVar | rs104894735 |
Map | rs104894735 |
PheGenI | rs104894735 |
Biobank | rs104894735 |
1000 genomes | rs104894735 |
hgdp | rs104894735 |
ensembl | rs104894735 |
geneview | rs104894735 |
scholar | rs104894735 |
rs104894735 | |
pharmgkb | rs104894735 |
gwascentral | rs104894735 |
openSNP | rs104894735 |
23andMe | rs104894735 |
SNPshot | rs104894735 |
SNPdbe | rs104894735 |
MSV3d | rs104894735 |
GWAS Ctlg | rs104894735 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894735(T;T) |
Alt | rs104894735(T;T) |
Reference | Rs104894735(C;C) |
Significance | Pathogenic |
Disease | Pettigrew syndrome |
Variation | info |
Gene | AP1S2 |
CLNDBN | Pettigrew syndrome |
Reversed | 1 |
HGVS | NC_000023.10:g.15870494G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000011525.6, |