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: rs121913400
rs121913400
22 0.679 0.286 3 41224610 missense variant C/A,G,T snp 0.810 1.000 6 1999 2016
dbSNP: rs121913228
rs121913228
15 0.724 0.214 3 41224621 missense variant T/C,G snp 0.800 1 2016 2016
dbSNP: rs28931588
rs28931588
13 0.724 0.179 3 41224606 missense variant G/A,C,T snp 0.700 3 2015 2016
dbSNP: rs17710891
rs17710891
SMO
2 0.923 0.036 7 129209348 missense variant G/A,C snp 2.4E-05 0.700 2 2009 2012
dbSNP: rs28931589
rs28931589
10 0.744 0.250 3 41224613 missense variant G/A,C,T snp 0.700 2 2016 2016
dbSNP: rs1057519884
rs1057519884
10 0.756 0.214 16 3738616 missense variant C/A,T snp 0.700 1 2016 2016
dbSNP: rs1057519886
rs1057519886
11 0.744 0.250 3 41224609 missense variant T/A,C,G snp 0.700 1 2016 2016
dbSNP: rs1057519889
rs1057519889
5 0.821 0.179 22 41169525 missense variant G/A,T snp 0.700 1 2016 2016
dbSNP: rs1057519895
rs1057519895
13 0.734 0.214 4 152328232 missense variant C/A,G,T snp 0.700 1 2016 2016
dbSNP: rs1057519897
rs1057519897
6 0.801 0.214 8 38414788 missense variant C/G,T snp 4.0E-06 0.700 1 2016 2016
dbSNP: rs1057519898
rs1057519898
5 0.846 0.107 8 38417333 missense variant T/C snp 0.700 1 2016 2016
dbSNP: rs1057519899
rs1057519899
5 0.846 0.107 8 38417879 missense variant T/C snp 0.700 1 2016 2016
dbSNP: rs1057519919
rs1057519919
5 0.846 0.143 2 15942195 missense variant C/T snp 0.700 1 2016 2016
dbSNP: rs1057519929
rs1057519929
8 0.801 0.143 3 179199066 missense variant G/A snp 0.700 1 2016 2016
dbSNP: rs1057519932
rs1057519932
21 0.679 0.286 3 179234298 missense variant T/G snp 0.700 1 2016 2016
dbSNP: rs1057519940
rs1057519940
12 0.756 0.179 3 179218308 missense variant G/T snp 0.700 1 2016 2016
dbSNP: rs1057519960
rs1057519960
7 0.821 0.250 11 66063413 missense variant A/G snp 0.700 1 2016 2016
dbSNP: rs1060501105
rs1060501105
2 0.923 0.143 10 102615266 splice acceptor variant A/T snp 0.700 1 2017 2017
dbSNP: rs1060501108
rs1060501108
2 0.923 0.143 10 102549993 frameshift variant AG/A in-del 0.700 1 2017 2017
dbSNP: rs1060501109
rs1060501109
2 0.923 0.143 10 102550088 stop gained C/T snp 6.4E-05 0.700 1 2017 2017
dbSNP: rs11540652
rs11540652
40 0.618 0.464 17 7674220 missense variant C/A,G,T snp 1.2E-05 0.700 1 2016 2016
dbSNP: rs121434595
rs121434595
19 0.692 0.357 1 114716124 missense variant C/A,G,T snp 0.700 1 2016 2016
dbSNP: rs121434596
rs121434596
18 0.707 0.357 1 114716123 missense variant C/A,G,T snp 4.0E-06; 4.0E-06 0.700 1 2016 2016
dbSNP: rs121912651
rs121912651
41 0.618 0.464 17 7674221 missense variant G/A,C snp 4.0E-06 0.700 1 2016 2016
dbSNP: rs121912657
rs121912657
22 0.679 0.464 17 7673806 missense variant C/A,T snp 4.0E-06 0.700 1 2016 2016