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: rs1057518708
rs1057518708
1 1.000 0.120 X 77688843 missense variant G/A snv 0.800 1.000 12 1995 2011
dbSNP: rs122445093
rs122445093
1 1.000 0.120 X 77633696 missense variant T/C snv 0.800 1.000 12 1995 2011
dbSNP: rs122445094
rs122445094
1 1.000 0.120 X 77633682 missense variant A/G snv 0.800 1.000 12 1995 2011
dbSNP: rs122445095
rs122445095
1 1.000 0.120 X 77633572 missense variant C/A;T snv 0.800 1.000 12 1995 2011
dbSNP: rs122445096
rs122445096
1 1.000 0.120 X 77593702 missense variant T/A snv 0.800 1.000 12 1995 2011
dbSNP: rs122445097
rs122445097
1 1.000 0.120 X 77574326 missense variant A/G snv 0.800 1.000 12 1995 2011
dbSNP: rs122445098
rs122445098
1 1.000 0.120 X 77558685 missense variant T/C snv 0.800 1.000 12 1995 2011
dbSNP: rs122445103
rs122445103
2 0.925 0.240 X 77688844 missense variant G/C snv 0.800 1.000 12 1995 2011
dbSNP: rs122445104
rs122445104
1 1.000 0.120 X 77620442 missense variant C/T snv 0.800 1.000 12 1995 2011
dbSNP: rs122445105
rs122445105
3 0.882 0.240 X 77684520 missense variant G/A snv 0.800 1.000 12 1995 2011
dbSNP: rs122445106
rs122445106
1 1.000 0.120 X 77633660 missense variant G/A snv 5.5E-06 0.800 1.000 12 1995 2011
dbSNP: rs1569535642
rs1569535642
1 1.000 0.120 X 77654098 splice region variant C/T snv 0.700 1.000 2 1996 2011
dbSNP: rs1057524153
rs1057524153
1 1.000 0.120 X 77684527 missense variant G/C snv 0.700 0
dbSNP: rs1060499658
rs1060499658
1 1.000 0.120 X 77589929 missense variant C/T snv 0.700 0
dbSNP: rs122445099
rs122445099
6 0.827 0.400 X 77520832 stop gained G/A snv 0.700 0
dbSNP: rs122445100
rs122445100
1 1.000 0.120 X 77520826 stop gained C/A snv 0.700 0
dbSNP: rs122445101
rs122445101
3 0.882 0.240 X 77558781 missense variant C/T snv 0.700 0
dbSNP: rs122445108
rs122445108
7 0.807 0.320 X 77717155 stop gained G/A snv 0.700 0
dbSNP: rs1557106482
rs1557106482
1 1.000 0.120 X 77633302 missense variant A/G snv 0.700 0
dbSNP: rs1569515457
rs1569515457
1 1.000 0.120 X 77520796 stop gained G/A snv 0.700 0
dbSNP: rs1569539477
rs1569539477
1 1.000 0.120 X 77684505 missense variant T/C snv 0.700 0
dbSNP: rs398123425
rs398123425
9 0.776 0.320 X 77688876 missense variant T/C snv 0.700 0
dbSNP: rs121913500
rs121913500
96 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.020 1.000 2 2019 2019
dbSNP: rs55819519
rs55819519
40 0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 0.020 1.000 2 2019 2019
dbSNP: rs1034749666
rs1034749666
9 0.776 0.160 21 33027257 missense variant G/A snv 0.010 1.000 1 2017 2017