rs1060502292
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TC;TC) | 0 | common in clinvar |
Make rs1060502292(-;-) |
Make rs1060502292(-;TC) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 9 |
Position | 95468803 |
Gene | LOC100507346, PTCH1 |
is a | snp |
is | mentioned by |
dbSNP | rs1060502292 |
dbSNP (classic) | rs1060502292 |
ClinGen | rs1060502292 |
ebi | rs1060502292 |
HLI | rs1060502292 |
Exac | rs1060502292 |
Gnomad | rs1060502292 |
Varsome | rs1060502292 |
LitVar | rs1060502292 |
Map | rs1060502292 |
PheGenI | rs1060502292 |
Biobank | rs1060502292 |
1000 genomes | rs1060502292 |
hgdp | rs1060502292 |
ensembl | rs1060502292 |
geneview | rs1060502292 |
scholar | rs1060502292 |
rs1060502292 | |
pharmgkb | rs1060502292 |
gwascentral | rs1060502292 |
openSNP | rs1060502292 |
23andMe | rs1060502292 |
SNPshot | rs1060502292 |
SNPdbe | rs1060502292 |
MSV3d | rs1060502292 |
GWAS Ctlg | rs1060502292 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060502292(-;-) |
Alt | rs1060502292(-;-) |
Reference | Rs1060502292(TC;TC) |
Significance | Pathogenic |
Disease | Gorlin syndrome Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | LOC100507346 PTCH1 |
CLNDBN | Gorlin syndrome Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000009.11:g.98231085_98231086delGA |
CLNSRC | |
CLNACC | RCV000473031.1, RCV000492757.1, |