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: rs1554695039
rs1554695039
PTCH1 ; LOC100507346
1.000 0.160 9 95468939 stop gained G/A snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 1.000 2 1997 2012
dbSNP: rs1554698613
rs1554698613
PTCH1
1.000 0.160 9 95477680 splice acceptor variant TTAGACAGGCATAGGCGAGCTGCAAGCAGAACAATGG/- delins
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 1.000 2 2006 2006
dbSNP: rs1554700574
rs1554700574
PTCH1
1.000 0.160 9 95481948 splice donor variant CAGGAGG/- del
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 1.000 2 2006 2006
dbSNP: rs1554708760
rs1554708760
PTCH1
1.000 0.160 9 95506541 frameshift variant AA/- del
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 1.000 2 1997 2006
dbSNP: rs16909898
rs16909898
PTCH1 ; LOC100507346
9 95468726 intron variant A/G snv 8.4E-02 0.10
CUI: C0035227
Disease: Respiratory Function Tests
Respiratory Function Tests 		0.700 1.000 2 2010 2012
dbSNP: rs587776689
rs587776689
PTCH1
0.882 0.160 9 95453587 missense variant T/A;G snv
CUI: C2751544
Disease: BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1
BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1 		0.700 1.000 2 1996 1998
dbSNP: rs864622212
rs864622212
PTCH1
1.000 0.160 9 95506542 frameshift variant AG/- delins
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 1.000 2 1997 2006
dbSNP: rs878853849
rs878853849
PTCH1
1.000 0.160 9 95506601 splice acceptor variant T/C;G snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 1.000 2 2006 2006
dbSNP: rs878853852
rs878853852
PTCH1 ; LOC100507346
1.000 0.160 9 95462000 splice acceptor variant T/A;C snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 1.000 2 2006 2006
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: 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: rs1060502292
rs1060502292
PTCH1 ; LOC100507346
1.000 0.160 9 95468803 frameshift variant AG/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 1997 1997
dbSNP: rs1064793921
rs1064793921
PTCH1
1.000 0.160 9 95476161 splice acceptor variant T/C;G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2014 2014
dbSNP: rs1064794260
rs1064794260
PTCH1
9 95459654 stop gained G/A;C;T snv 4.0E-06; 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 1998 1998
dbSNP: rs111532669
rs111532669
PTCH1
9 95446682 3 prime UTR variant C/T snv 1.8E-02
CUI: C1883008
Disease: Serum Alanine Aminotransferase Measurement
Serum Alanine Aminotransferase Measurement 		0.700 1.000 1 2019 2019
dbSNP: rs111532669
rs111532669
PTCH1
9 95446682 3 prime UTR variant C/T snv 1.8E-02
CUI: C0201836
Disease: Alanine aminotransferase measurement
Alanine aminotransferase measurement 		0.700 1.000 1 2019 2019
dbSNP: rs113154802
rs113154802
PTCH1
9 95516131 intron variant C/T snv 7.9E-02
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs1131690974
rs1131690974
PTCH1
9 95477671 stop gained C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 1997 1997
dbSNP: rs1131690987
rs1131690987
PTCH1
1.000 0.160 9 95480449 frameshift variant A/- del
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 1.000 1 1998 1998
dbSNP: rs1131690987
rs1131690987
PTCH1
1.000 0.160 9 95480449 frameshift variant A/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 1998 1998
dbSNP: rs1131690999
rs1131690999
PTCH1
9 95477588 missense variant A/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2011 2011
dbSNP: rs1355619
rs1355619
PTCH1
9 95507889 intron variant A/G snv 0.41
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018