Source: BEFREE

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: 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: 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: 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: 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: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		0.010 1.000 1 2010 2010
dbSNP: rs1131690985
rs1131690985
PTCH1
0.925 0.200 9 95449891 missense variant C/T snv
CUI: C0010709
Disease: Cyst
Cyst 		0.010 1.000 1 2000 2000
dbSNP: rs1131690985
rs1131690985
PTCH1
0.925 0.200 9 95449891 missense variant C/T snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.010 1.000 1 2000 2000
dbSNP: rs1131690998
rs1131690998
PTCH1
0.925 0.280 9 95506484 missense variant A/C snv
CUI: C0341038
Disease: Jaw Keratocyst
Jaw Keratocyst 		0.010 < 0.001 1 2008 2008
dbSNP: rs1131690998
rs1131690998
PTCH1
0.925 0.280 9 95506484 missense variant A/C snv
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.010 < 0.001 1 2008 2008
dbSNP: rs1180302996
rs1180302996
PTCH1
1.000 0.080 9 95480007 synonymous variant C/T snv 7.0E-06
CUI: C0007129
Disease: Merkel cell carcinoma
Merkel cell carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs1249050389
rs1249050389
PTCH1
0.925 0.240 9 95485696 stop gained G/C snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.010 1.000 1 2018 2018
dbSNP: rs1249050389
rs1249050389
PTCH1
0.925 0.240 9 95485696 stop gained G/C snv
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		0.010 1.000 1 2018 2018
dbSNP: rs1365943053
rs1365943053
PTCH1
0.882 0.080 9 95516630 missense variant C/T snv 7.0E-06
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs1365943053
rs1365943053
PTCH1
0.882 0.080 9 95516630 missense variant C/T snv 7.0E-06
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		0.010 1.000 1 2014 2014
dbSNP: rs1365943053
rs1365943053
PTCH1
0.882 0.080 9 95516630 missense variant C/T snv 7.0E-06
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid 		0.010 1.000 1 2014 2014
dbSNP: rs2066836
rs2066836
PTCH1
1.000 9 95476076 synonymous variant G/A snv 0.17 0.15
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: rs2236405
rs2236405
PTCH1
1.000 0.080 9 95449290 missense variant T/A snv 3.4E-02 4.7E-02
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.010 1.000 1 2013 2013
dbSNP: rs28377268
rs28377268
PTCH1 ; LOC100507346
0.925 0.080 9 95462774 intron variant G/A;C;T snv
CUI: C0029459
Disease: Osteoporosis, Senile
Osteoporosis, Senile 		0.010 1.000 1 2019 2019
dbSNP: rs28377268
rs28377268
PTCH1 ; LOC100507346
0.925 0.080 9 95462774 intron variant G/A;C;T snv
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.010 1.000 1 2019 2019
dbSNP: rs357564
rs357564
PTCH1
0.827 0.160 9 95447312 missense variant G/A;C;T snv 0.39; 1.2E-05; 4.1E-06
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		0.010 1.000 1 2006 2006
dbSNP: rs357564
rs357564
PTCH1
0.827 0.160 9 95447312 missense variant G/A;C;T snv 0.39; 1.2E-05; 4.1E-06
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: rs357564
rs357564
PTCH1
0.827 0.160 9 95447312 missense variant G/A;C;T snv 0.39; 1.2E-05; 4.1E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2003 2003
dbSNP: rs357564
rs357564
PTCH1
0.827 0.160 9 95447312 missense variant G/A;C;T snv 0.39; 1.2E-05; 4.1E-06
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.010 1.000 1 2013 2013
dbSNP: rs357564
rs357564
PTCH1
0.827 0.160 9 95447312 missense variant G/A;C;T snv 0.39; 1.2E-05; 4.1E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2003 2003