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: rs578002520
rs578002520
SMO
3 0.882 0.200 7 129203390 missense variant G/A snv 3.2E-05 1.3E-04 0.010 1.000 1 2019 2019
dbSNP: rs778791846
rs778791846
SMO
4 0.851 0.200 7 129210515 missense variant C/T snv 2.0E-05 0.010 1.000 1 2019 2019