rs587776628
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(G;G) | 0 | common in clinvar |
Make rs587776628(A;A) |
Make rs587776628(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 44823064 |
Gene | PTCH2 |
is a | snp |
is | mentioned by |
dbSNP | rs587776628 |
dbSNP (classic) | rs587776628 |
ClinGen | rs587776628 |
ebi | rs587776628 |
HLI | rs587776628 |
Exac | rs587776628 |
Gnomad | rs587776628 |
Varsome | rs587776628 |
LitVar | rs587776628 |
Map | rs587776628 |
PheGenI | rs587776628 |
Biobank | rs587776628 |
1000 genomes | rs587776628 |
hgdp | rs587776628 |
ensembl | rs587776628 |
geneview | rs587776628 |
scholar | rs587776628 |
rs587776628 | |
pharmgkb | rs587776628 |
gwascentral | rs587776628 |
openSNP | rs587776628 |
23andMe | rs587776628 |
SNPshot | rs587776628 |
SNPdbe | rs587776628 |
MSV3d | rs587776628 |
GWAS Ctlg | rs587776628 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776628(A;A) Rs587776628(G;G) |
Alt | rs587776628(A;A) Rs587776628(G;G) |
Reference | Rs587776628(C;C) |
Significance | Pathogenic |
Disease | Basal cell carcinoma |
Variation | info |
Gene | PTCH2 |
CLNDBN | Basal cell carcinoma, somatic |
Reversed | 1 |
HGVS | NC_000001.10:g.45288736G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006521.5, |