Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs758656848
rs758656848
PTCH1
0.925 0.040 9 95485797 missense variant T/C snv
CUI: C1849452
Disease: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder)
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder) 		0.010 1.000 1 2006 2006
dbSNP: rs758656848
rs758656848
PTCH1
0.925 0.040 9 95485797 missense variant T/C snv
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		0.010 1.000 1 2006 2006
dbSNP: rs758656848
rs758656848
PTCH1
0.925 0.040 9 95485797 missense variant T/C snv
CUI: C3811653
Disease: Experimental Organism Basal Cell Carcinoma
Experimental Organism Basal Cell Carcinoma 		0.010 1.000 1 2006 2006