rs760253622, PTCH1

N. diseases: 3
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.
Carcinoma, Basal Cell
CUI: C4721806
Disease: Carcinoma, Basal Cell
91 0.925 0.040 9 95506428 missense variant C/G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2006 2006
Experimental Organism Basal Cell Carcinoma
CUI: C3811653
Disease: Experimental Organism Basal Cell Carcinoma
63 0.925 0.040 9 95506428 missense variant C/G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2006 2006
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder)
CUI: C1849452
Disease: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder)
13 0.925 0.040 9 95506428 missense variant C/G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2006 2006