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: 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: rs12210050
rs12210050
8 0.807 0.040 6 475489 non coding transcript exon variant C/T snv 0.11 0.710 1.000 1 2011 2011
dbSNP: rs13014235
rs13014235
5 0.851 0.040 2 201350769 missense variant C/G snv 0.62 0.63 0.010 1.000 1 2017 2017
dbSNP: rs142310826
rs142310826
3 1.000 0.040 4 178481702 intergenic variant T/A snv 1.7E-02 0.010 1.000 1 2016 2016
dbSNP: rs157935
rs157935
4 0.851 0.040 7 130900794 intron variant T/G snv 0.28 0.700 1.000 1 2014 2014
dbSNP: rs16917546
rs16917546
6 0.851 0.040 10 62637778 intron variant T/C snv 0.29 0.010 1.000 1 2017 2017
dbSNP: rs214782
rs214782
4 0.851 0.040 20 2301324 intron variant G/A snv 0.73 0.700 1.000 1 2014 2014
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: rs2805831
rs2805831
2 1.000 0.040 9 97704354 intron variant G/A snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs3769823
rs3769823
6 0.851 0.040 2 201258272 missense variant A/G snv 0.66 0.65 0.010 1.000 1 2017 2017
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: rs57343616
rs57343616
2 1.000 0.040 12 56229563 3 prime UTR variant C/T snv 4.2E-02 0.010 1.000 1 2017 2017
dbSNP: rs59586681
rs59586681
4 0.851 0.040 20 2239664 intron variant A/G;T snv 0.34 0.700 1.000 1 2014 2014
dbSNP: rs659857
rs659857
2 1.000 0.040 11 65862461 synonymous variant T/C snv 0.57 0.52 0.010 1.000 1 2017 2017
dbSNP: rs700635
rs700635
3 0.925 0.040 2 201288502 3 prime UTR variant C/A snv 0.72 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: rs7297245
rs7297245
HAL
4 0.882 0.040 12 95980836 missense variant C/T snv 0.85 0.86 0.010 < 0.001 1 2008 2008
dbSNP: rs7335046
rs7335046
7 0.807 0.040 13 99389484 downstream gene variant G/C snv 0.80 0.710 1.000 1 2011 2011
dbSNP: rs746339472
rs746339472
2 1.000 0.040 9 95506413 missense variant C/T snv 8.0E-06 2.1E-05 0.010 1.000 1 2016 2016
dbSNP: rs749496294
rs749496294
3 0.925 0.040 20 3562435 missense variant G/A snv 1.2E-05 1.4E-05 0.010 1.000 1 2009 2009
dbSNP: rs758656848
rs758656848
3 0.925 0.040 9 95485797 missense variant T/C snv 0.010 1.000 1 2006 2006
dbSNP: rs760253622
rs760253622
3 0.925 0.040 9 95506428 missense variant C/G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs768043782
rs768043782
2 1.000 0.040 9 22005994 missense variant C/T snv 8.6E-06 0.010 1.000 1 2009 2009
dbSNP: rs774885952
rs774885952
2 1.000 0.040 12 57464828 missense variant C/T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs79824801
rs79824801
2 1.000 0.040 12 56334353 intron variant T/C snv 4.5E-02 0.010 1.000 1 2017 2017