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: rs2287622
rs2287622
16 0.724 0.240 2 168973818 missense variant A/C;G;T snv 0.57 0.020 1.000 2 2010 2014
dbSNP: rs1382897404
rs1382897404
4 0.851 0.040 2 169018071 missense variant C/G snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1478060232
rs1478060232
2 0.925 0.040 2 168969407 missense variant T/C snv 0.010 1.000 1 2010 2010
dbSNP: rs747471233
rs747471233
2 0.925 0.040 2 169018074 missense variant C/G snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs769652427
rs769652427
2 0.925 0.040 2 168971917 missense variant G/C snv 1.2E-05 0.010 1.000 1 2010 2010