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: rs121918347
rs121918347
SMO
4 0.851 0.080 7 129210500 missense variant G/T snv 0.700 0
dbSNP: rs121918348
rs121918348
SMO
2 0.925 0.040 7 129210997 missense variant G/A snv 4.0E-05 2.8E-05 0.700 0
dbSNP: rs879255280
rs879255280
SMO
22 0.701 0.200 7 129206557 missense variant C/T snv 0.700 0
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: rs912880810
rs912880810
SMO
2 1.000 0.040 7 129203401 missense variant C/G;T snv 0.010 1.000 1 2016 2016