Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs753635972
rs753635972
0.790 0.120 15 79845388 missense variant C/T snv 3.2E-05 2.1E-05
CUI: C1845245
Disease: Lower limb hypertonia
Lower limb hypertonia
0.700 0
dbSNP: rs771379232
rs771379232
0.790 0.120 15 79845338 stop gained G/A snv 2.0E-05 3.5E-05
CUI: C1845245
Disease: Lower limb hypertonia
Lower limb hypertonia
0.700 0