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: rs869312907
rs869312907
2 0.925 0.040 12 47995910 missense variant C/T snv 0.810 1.000 1 2015 2015
dbSNP: rs121912874
rs121912874
14 0.716 0.400 12 47978329 missense variant G/A snv 0.700 0
dbSNP: rs121912893
rs121912893
15 0.708 0.400 12 47983721 stop gained G/A;T snv 0.700 0
dbSNP: rs760093841
rs760093841
1 1.000 12 47975548 missense variant C/A;G;T snv 4.1E-06 0.700 0
dbSNP: rs794727261
rs794727261
14 0.716 0.400 12 47999953 stop gained G/T snv 0.700 0
dbSNP: rs1480620991
rs1480620991
2 0.925 0.040 12 47984580 missense variant C/G snv 4.0E-06 0.010 1.000 1 2015 2015