rs864622583
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GGGTTGTTACATTCAAAAAAACTGCGGCAAGTTCT;GGGTTGTTACATTCAAAAAAACTGCGGCAAGTTCT) | 0 | common in clinvar |
Make rs864622583(-;-) |
Make rs864622583(-;GGGTTGTTACATTCAAAAAAACTGCGGCAAGTTCT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 95506497 |
Gene | PTCH1 |
is a | snp |
is | mentioned by |
dbSNP | rs864622583 |
dbSNP (classic) | rs864622583 |
ClinGen | rs864622583 |
ebi | rs864622583 |
HLI | rs864622583 |
Exac | rs864622583 |
Gnomad | rs864622583 |
Varsome | rs864622583 |
LitVar | rs864622583 |
Map | rs864622583 |
PheGenI | rs864622583 |
Biobank | rs864622583 |
1000 genomes | rs864622583 |
hgdp | rs864622583 |
ensembl | rs864622583 |
geneview | rs864622583 |
scholar | rs864622583 |
rs864622583 | |
pharmgkb | rs864622583 |
gwascentral | rs864622583 |
openSNP | rs864622583 |
23andMe | rs864622583 |
SNPshot | rs864622583 |
SNPdbe | rs864622583 |
MSV3d | rs864622583 |
GWAS Ctlg | rs864622583 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864622583(-;-) |
Alt | rs864622583(-;-) |
Reference | Rs864622583(GGGTTGTTACATTCAAAAAAACTGCGGCAAGTTCT;GGGTTGTTACATTCAAAAAAACTGCGGCAAGTTCT) |
Significance | Pathogenic |
Disease | Gorlin syndrome |
Variation | info |
Gene | PTCH1 |
CLNDBN | Gorlin syndrome |
Reversed | 1 |
HGVS | NC_000009.11:g.98268779_98268813del35 |
CLNSRC | |
CLNACC | RCV000205973.2, |