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: rs2231599
rs2231599
1 1.000 0.040 1 86574546 missense variant A/G snv 1.8E-03 5.5E-04 0.010 1.000 1 2019 2019
dbSNP: rs757773924
rs757773924
1 1.000 0.040 1 86578055 missense variant C/G;T snv 1.6E-05; 1.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs759981524
rs759981524
1 1.000 0.040 1 86579956 missense variant A/C;G;T snv 2.6E-05; 8.6E-06; 3.9E-05 0.010 1.000 1 2019 2019
dbSNP: rs763334876
rs763334876
1 1.000 0.040 1 86567425 missense variant G/A snv 1.2E-05 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs79822589
rs79822589
1 1.000 0.040 1 86565961 synonymous variant T/C snv 6.5E-04 1.0E-04 0.010 1.000 1 2019 2019