PTCH1, patched 1, 5727

N. diseases: 604; N. variants: 194
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1036980234
rs1036980234
0.827 0.160 9 95447156 missense variant G/A snv
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell
Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs357564
rs357564
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
Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs746339472
rs746339472
1.000 0.040 9 95506413 missense variant C/T snv 8.0E-06 2.1E-05
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell
Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs758656848
rs758656848
0.925 0.040 9 95485797 missense variant T/C snv
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell
Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs760253622
rs760253622
0.925 0.040 9 95506428 missense variant C/G;T snv 4.0E-06; 8.0E-06
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell
Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs937023804
rs937023804
1.000 0.040 9 95479023 missense variant C/T snv 2.1E-05
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell
Neoplasms 0.010 1.000 1 2016 2016