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: rs10512249
rs10512249
9 95494027 intron variant G/A snv 0.11
CUI: C0231921
Disease: Pulmonary function
Pulmonary function
0.700 1.000 1 2010 2010
dbSNP: rs16909859
rs16909859
9 95442510 downstream gene variant G/A snv 0.14
CUI: C0231921
Disease: Pulmonary function
Pulmonary function
0.700 1.000 1 2010 2010
dbSNP: rs16909898
rs16909898
9 95468726 intron variant A/G snv 8.4E-02 0.10
CUI: C0231921
Disease: Pulmonary function
Pulmonary function
0.700 1.000 1 2010 2010
dbSNP: rs2282041
rs2282041
9 95486105 intron variant A/G snv 0.12
CUI: C0231921
Disease: Pulmonary function
Pulmonary function
0.700 1.000 1 2010 2010
dbSNP: rs2282043
rs2282043
9 95450326 3 prime UTR variant C/T snv 6.5E-02
CUI: C0231921
Disease: Pulmonary function
Pulmonary function
0.700 1.000 1 2010 2010
dbSNP: rs3824488
rs3824488
9 95474382 intron variant C/T snv 6.5E-02
CUI: C0231921
Disease: Pulmonary function
Pulmonary function
0.700 1.000 1 2010 2010