rs587776689
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs587776689(A;A) |
Make rs587776689(A;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 9 |
Position | 95453587 |
Gene | PTCH1 |
is a | snp |
is | mentioned by |
dbSNP | rs587776689 |
dbSNP (classic) | rs587776689 |
ClinGen | rs587776689 |
ebi | rs587776689 |
HLI | rs587776689 |
Exac | rs587776689 |
Gnomad | rs587776689 |
Varsome | rs587776689 |
LitVar | rs587776689 |
Map | rs587776689 |
PheGenI | rs587776689 |
Biobank | rs587776689 |
1000 genomes | rs587776689 |
hgdp | rs587776689 |
ensembl | rs587776689 |
geneview | rs587776689 |
scholar | rs587776689 |
rs587776689 | |
pharmgkb | rs587776689 |
gwascentral | rs587776689 |
openSNP | rs587776689 |
23andMe | rs587776689 |
SNPshot | rs587776689 |
SNPdbe | rs587776689 |
MSV3d | rs587776689 |
GWAS Ctlg | rs587776689 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776689(A;A) |
Alt | rs587776689(A;A) |
Reference | Rs587776689(T;T) |
Significance | Pathogenic |
Disease | Basal cell carcinoma |
Variation | info |
Gene | PTCH1 |
CLNDBN | Basal cell carcinoma, somatic |
Reversed | 0 |
HGVS | NC_000009.11:g.98215869T>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000008703.4, |