rs199476090
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 5.3 | Basal cell nevus syndrome |
Make rs199476090(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 95479134 |
Gene | PTCH1 |
is a | snp |
is | mentioned by |
dbSNP | rs199476090 |
dbSNP (classic) | rs199476090 |
ClinGen | rs199476090 |
ebi | rs199476090 |
HLI | rs199476090 |
Exac | rs199476090 |
Gnomad | rs199476090 |
Varsome | rs199476090 |
LitVar | rs199476090 |
Map | rs199476090 |
PheGenI | rs199476090 |
Biobank | rs199476090 |
1000 genomes | rs199476090 |
hgdp | rs199476090 |
ensembl | rs199476090 |
geneview | rs199476090 |
scholar | rs199476090 |
rs199476090 | |
pharmgkb | rs199476090 |
gwascentral | rs199476090 |
openSNP | rs199476090 |
23andMe | rs199476090 |
SNPshot | rs199476090 |
SNPdbe | rs199476090 |
MSV3d | rs199476090 |
GWAS Ctlg | rs199476090 |
Max Magnitude | 5.3 |
ClinVar | |
---|---|
Risk | rs199476090(T;T) |
Alt | rs199476090(T;T) |
Reference | Rs199476090(C;C) |
Significance | Pathogenic |
Disease | Gorlin syndrome |
Variation | info |
Gene | PTCH1 |
CLNDBN | Gorlin syndrome |
Reversed | 1 |
HGVS | NC_000009.11:g.98241416G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000008696.2, |