Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs13181
rs13181
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.030 0.667 3 1999 2005
dbSNP: rs17710891
rs17710891
SMO
2 0.925 0.040 7 129209348 missense variant G/A;C snv 2.4E-05 0.700 1.000 3 2009 2015
dbSNP: rs1805007
rs1805007
25 0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 0.730 1.000 3 2009 2015
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 1.000 2 2006 2009
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2006 2009
dbSNP: rs2228479
rs2228479
11 0.763 0.280 16 89919532 missense variant G/A;C snv 7.8E-02; 4.0E-06 0.020 0.500 2 1999 2006
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 1.000 2 2006 2009
dbSNP: rs1036980234
rs1036980234
6 0.827 0.160 9 95447156 missense variant G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs104894040
rs104894040
SHH
4 0.882 0.160 7 155806509 missense variant A/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs104894049
rs104894049
SHH
3 0.925 0.120 7 155806527 missense variant T/A snv 0.010 1.000 1 2016 2016
dbSNP: rs121913403
rs121913403
23 0.683 0.240 3 41224622 missense variant C/A;G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs12202284
rs12202284
3 0.925 0.080 6 471136 intron variant C/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs1222213359
rs1222213359
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs1353702185
rs1353702185
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1356844630
rs1356844630
5 0.925 0.160 12 57470802 stop gained C/T snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs16891982
rs16891982
13 0.776 0.200 5 33951588 missense variant C/A;G snv 0.65 0.010 1.000 1 2009 2009
dbSNP: rs1799793
rs1799793
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.010 < 0.001 1 2005 2005
dbSNP: rs214803
rs214803
4 0.851 0.040 20 2309687 missense variant C/A;G;T snv 0.82; 4.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs2293152
rs2293152
10 0.763 0.480 17 42329511 intron variant G/A;C;T snv 2.8E-05; 0.59; 1.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs357564
rs357564
6 0.827 0.160 9 95447312 missense variant G/A;C;T snv 0.39; 1.2E-05; 4.1E-06 0.010 1.000 1 2006 2006
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2007 2007
dbSNP: rs41303402
rs41303402
SMO
2 1.000 0.040 7 129203437 missense variant G/A;T snv 1.0E-04; 5.7E-06 0.010 1.000 1 2016 2016
dbSNP: rs7006527
rs7006527
4 0.851 0.040 8 100012277 intron variant A/C;T snv 0.700 1.000 1 2014 2014
dbSNP: rs7041
rs7041
GC
64 0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs749140677
rs749140677
VDR
13 0.752 0.240 12 47857185 missense variant G/A snv 8.0E-06 0.010 1.000 1 2011 2011