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: rs267607087
rs267607087
5 0.851 0.120 9 92047261 missense variant G/A;T snv 0.810 1.000 9 2001 2018
dbSNP: rs267607088
rs267607088
1 1.000 0.080 9 92047198 missense variant G/A snv 4.0E-06 0.800 1.000 8 2001 2018
dbSNP: rs119482082
rs119482082
2 0.925 0.080 9 92080044 missense variant A/C snv 0.730 1.000 10 2001 2016
dbSNP: rs119482083
rs119482083
1 1.000 0.080 9 92068095 missense variant A/T snv 8.0E-06 7.0E-06 0.700 1.000 5 2001 2016
dbSNP: rs119482081
rs119482081
1 1.000 0.080 9 92080045 missense variant C/T snv 0.700 1.000 4 2002 2016
dbSNP: rs797045071
rs797045071
1 1.000 0.080 9 92047181 missense variant C/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1131691917
rs1131691917
2 0.925 0.080 14 77576869 missense variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs119482084
rs119482084
2 1.000 0.080 9 92038342 missense variant C/G;T snv 4.3E-04; 1.2E-05 0.010 1.000 1 2004 2004
dbSNP: rs1259488389
rs1259488389
1 1.000 0.080 11 63719416 missense variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs1351789814
rs1351789814
1 1.000 0.080 2 38300312 missense variant T/C snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1479543020
rs1479543020
1 1.000 0.080 2 38296103 missense variant G/C snv 2.6E-05 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs267607091
rs267607091
3 0.882 0.080 14 77518097 missense variant T/A snv 0.010 1.000 1 2013 2013
dbSNP: rs587777108
rs587777108
5 0.925 0.080 11 63646550 missense variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs948857984
rs948857984
1 1.000 0.080 11 63719854 missense variant C/G snv 7.0E-06 0.010 1.000 1 2019 2019