rs1036980234, PTCH1

N. diseases: 6
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.827 0.160 9 95447156 missense variant G/A snv 0.010 1.000 1 2003 2003
Carcinoma, Basal Cell
CUI: C4721806
Disease: Carcinoma, Basal Cell
91 0.827 0.160 9 95447156 missense variant G/A snv 0.010 1.000 1 2006 2006
Cleft Lip with or without Cleft Palate
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
50 0.827 0.160 9 95447156 missense variant G/A snv 0.010 1.000 1 2010 2010
Experimental Organism Basal Cell Carcinoma
CUI: C3811653
Disease: Experimental Organism Basal Cell Carcinoma
63 0.827 0.160 9 95447156 missense variant G/A snv 0.010 1.000 1 2006 2006
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.827 0.160 9 95447156 missense variant G/A snv 0.010 1.000 1 2003 2003
Spina Bifida
CUI: C0080178
Disease: Spina Bifida
61 0.827 0.160 9 95447156 missense variant G/A snv 0.010 1.000 1 2013 2013