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: 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: rs137853214
rs137853214
2 0.925 0.040 5 87349304 missense variant G/T snv 0.700 0
dbSNP: rs137853215
rs137853215
2 0.925 0.040 5 87349309 missense variant A/G snv 0.700 0
dbSNP: rs137853216
rs137853216
2 0.925 0.040 5 87349312 missense variant A/G snv 0.700 0
dbSNP: rs587776628
rs587776628
1 1.000 1 44823064 splice region variant G/A snv 0.700 0
dbSNP: rs587776689
rs587776689
3 0.882 0.160 9 95453587 missense variant T/A;G snv 0.700 0