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: rs10512248
rs10512248
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: rs28701981
rs28701981
9 95455299 intron variant T/C snv 0.44
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2019 2019
dbSNP: rs4448343
rs4448343
9 95504088 intron variant A/C;G snv
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2014 2014
dbSNP: rs473902
rs473902
9 95493953 intron variant T/G snv 5.7E-02
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2010 2010