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: 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