rs2066836
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs2066836(C;T) |
Make rs2066836(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 95476076 |
Gene | PTCH1 |
is a | snp |
is | mentioned by |
dbSNP | rs2066836 |
dbSNP (classic) | rs2066836 |
ClinGen | rs2066836 |
ebi | rs2066836 |
HLI | rs2066836 |
Exac | rs2066836 |
Gnomad | rs2066836 |
Varsome | rs2066836 |
LitVar | rs2066836 |
Map | rs2066836 |
PheGenI | rs2066836 |
Biobank | rs2066836 |
1000 genomes | rs2066836 |
hgdp | rs2066836 |
ensembl | rs2066836 |
geneview | rs2066836 |
scholar | rs2066836 |
rs2066836 | |
pharmgkb | rs2066836 |
gwascentral | rs2066836 |
openSNP | rs2066836 |
23andMe | rs2066836 |
SNPshot | rs2066836 |
SNPdbe | rs2066836 |
MSV3d | rs2066836 |
GWAS Ctlg | rs2066836 |
GMAF | 0.1093 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
[PMID 19937600] Testing reported associations of genetic risk factors for oral clefts in a large Irish study population
[PMID 20346027] PTCH1 gene haplotype association with basal cell carcinoma after transplantation.
ClinVar | |
---|---|
Risk | rs2066836(T;T) |
Alt | rs2066836(T;T) |
Reference | Rs2066836(C;C) |
Significance | Probable-non-pathogenic |
Disease | not specified Gorlin syndrome Holoprosencephaly Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | PTCH1 |
CLNDBN | not specified Gorlin syndrome Holoprosencephaly Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000009.11:g.98238358G>A |
CLNSRC | |
CLNACC | RCV000250191.1, RCV000342546.1, RCV000376238.1, RCV000492508.1, |