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: 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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2003 2003
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: 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: 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: C3811653
Disease: Experimental Organism Basal Cell Carcinoma
Experimental Organism Basal Cell Carcinoma 		0.010 1.000 1 2006 2006
dbSNP: rs10512248
rs10512248
PTCH1
0.925 0.120 9 95497421 intron variant T/A;G snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 2 2008 2015
dbSNP: rs10512248
rs10512248
PTCH1
0.925 0.120 9 95497421 intron variant T/A;G snv
CUI: C0489786
Disease: Height
Height 		0.700 1.000 2 2008 2011
dbSNP: rs10512248
rs10512248
PTCH1
0.925 0.120 9 95497421 intron variant T/A;G snv
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.700 1.000 1 2017 2017
dbSNP: rs10512248
rs10512248
PTCH1
0.925 0.120 9 95497421 intron variant T/A;G snv
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.700 1.000 1 2017 2017
dbSNP: rs10512249
rs10512249
PTCH1
9 95494027 intron variant G/A snv 0.11
CUI: C3160731
Disease: Pulmonary function (finding)
Pulmonary function (finding) 		0.700 1.000 1 2010 2010
dbSNP: rs10512249
rs10512249
PTCH1
9 95494027 intron variant G/A snv 0.11
CUI: C0231921
Disease: Pulmonary function
Pulmonary function 		0.700 1.000 1 2010 2010
dbSNP: rs1057520590
rs1057520590
PTCH1
1.000 0.160 9 95482204 splice acceptor variant C/G snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 0
dbSNP: rs1060502264
rs1060502264
PTCH1
1.000 0.160 9 95449930 frameshift variant C/- del
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 0
dbSNP: rs1060502268
rs1060502268
PTCH1
1.000 0.160 9 95476835 missense variant C/T snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 1.000 4 2003 2013
dbSNP: rs1060502271
rs1060502271
PTCH1
1.000 0.160 9 95479149 splice acceptor variant T/A snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 0
dbSNP: rs1060502273
rs1060502273
PTCH1
1.000 0.160 9 95453562 frameshift variant AT/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 1997 1997
dbSNP: rs1060502273
rs1060502273
PTCH1
1.000 0.160 9 95453562 frameshift variant AT/- del
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 0
dbSNP: rs1060502274
rs1060502274
PTCH1 ; LOC100507346
1.000 0.160 9 95469119 stop gained G/A snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 0
dbSNP: rs1060502277
rs1060502277
PTCH1
1.000 0.160 9 95476758 splice donor variant C/A;T snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 1.000 2 2006 2006
dbSNP: rs1060502278
rs1060502278
PTCH1
1.000 0.160 9 95458207 stop gained C/A snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 0
dbSNP: rs1060502280
rs1060502280
PTCH1
1.000 0.160 9 95485814 frameshift variant TA/- delins
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 0
dbSNP: rs1060502281
rs1060502281
PTCH1
1.000 0.160 9 95481954 stop gained G/T snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 0
dbSNP: rs1060502281
rs1060502281
PTCH1
1.000 0.160 9 95481954 stop gained G/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1060502285
rs1060502285
PTCH1
1.000 0.160 9 95456414 splice acceptor variant C/T snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 0