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: rs104894697
rs104894697
1 1.000 0.120 19 17816972 missense variant G/A;C snv 3.5E-04; 4.0E-06 0.800 1.000 3 2000 2003
dbSNP: rs104894698
rs104894698
1 1.000 0.120 19 17816946 missense variant G/A snv 4.0E-06 2.1E-05 0.800 1.000 3 2000 2003
dbSNP: rs121912555
rs121912555
1 1.000 0.120 19 17816920 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.800 1.000 3 2000 2003
dbSNP: rs121912556
rs121912556
1 1.000 0.120 19 17816945 missense variant C/T snv 6.9E-04 2.7E-04 0.710 1.000 1 2018 2018
dbSNP: rs398122886
rs398122886
1 1.000 0.120 19 17817033 stop gained G/A snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs6523
rs6523
4 0.882 0.200 19 17821329 missense variant T/C snv 0.65 0.70 0.030 0.667 3 2000 2019
dbSNP: rs1003887
rs1003887
3 0.882 0.240 19 17816591 3 prime UTR variant C/T snv 0.69 0.010 1.000 1 2019 2019
dbSNP: rs1047233
rs1047233
2 0.925 0.200 19 17821381 synonymous variant T/A;C;G snv 0.30 0.37 0.010 1.000 1 2019 2019
dbSNP: rs2286663
rs2286663
2 0.925 0.200 19 17821480 synonymous variant C/T snv 0.10 7.3E-02 0.010 1.000 1 2019 2019
dbSNP: rs570837260
rs570837260
1 1.000 0.120 19 17821391 missense variant A/C snv 7.3E-04 5.5E-04 0.010 1.000 1 2009 2009