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: rs1036980234
rs1036980234
PTCH1
0.827 0.160 9 95447156 missense variant G/A snv
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		0.010 1.000 1 2010 2010
dbSNP: rs1036980234
rs1036980234
PTCH1
0.827 0.160 9 95447156 missense variant G/A snv
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.010 1.000 1 2013 2013
dbSNP: rs1036980234
rs1036980234
PTCH1
0.827 0.160 9 95447156 missense variant G/A snv
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		0.010 1.000 1 2006 2006
dbSNP: rs1036980234
rs1036980234
PTCH1
0.827 0.160 9 95447156 missense variant G/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2003 2003
dbSNP: rs1036980234
rs1036980234
PTCH1
0.827 0.160 9 95447156 missense variant G/A snv
CUI: C3811653
Disease: Experimental Organism Basal Cell Carcinoma
Experimental Organism Basal Cell Carcinoma 		0.010 1.000 1 2006 2006
dbSNP: rs1036980234
rs1036980234
PTCH1
0.827 0.160 9 95447156 missense variant G/A snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2003 2003