rs864622212
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;CT) | 5.3 | Basal cell nevus syndrome |
(CT;CT) | 0 | common in clinvar |
Make rs864622212(-;-) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 95506542 |
Gene | PTCH1 |
is a | snp |
is | mentioned by |
dbSNP | rs864622212 |
dbSNP (classic) | rs864622212 |
ClinGen | rs864622212 |
ebi | rs864622212 |
HLI | rs864622212 |
Exac | rs864622212 |
Gnomad | rs864622212 |
Varsome | rs864622212 |
LitVar | rs864622212 |
Map | rs864622212 |
PheGenI | rs864622212 |
Biobank | rs864622212 |
1000 genomes | rs864622212 |
hgdp | rs864622212 |
ensembl | rs864622212 |
geneview | rs864622212 |
scholar | rs864622212 |
rs864622212 | |
pharmgkb | rs864622212 |
gwascentral | rs864622212 |
openSNP | rs864622212 |
23andMe | rs864622212 |
SNPshot | rs864622212 |
SNPdbe | rs864622212 |
MSV3d | rs864622212 |
GWAS Ctlg | rs864622212 |
Max Magnitude | 5.3 |
ClinVar | |
---|---|
Risk | rs864622212(-;-) |
Alt | rs864622212(-;-) |
Reference | Rs864622212(CT;CT) |
Significance | Pathogenic |
Disease | Gorlin syndrome not provided |
Variation | info |
Gene | PTCH1 |
CLNDBN | Gorlin syndrome not provided |
Reversed | 1 |
HGVS | NC_000009.11:g.98268824_98268825delAG |
CLNSRC | |
CLNACC | RCV000205683.1, RCV000374909.2, |