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: rs104894136
rs104894136
4 0.882 0.200 10 102834074 stop gained G/A snv 0.020 1.000 2 1992 2016
dbSNP: rs104894137
rs104894137
3 0.882 0.200 10 102832626 missense variant G/T snv 0.010 1.000 1 1992 1992
dbSNP: rs104894138
rs104894138
3 0.882 0.240 10 102837076 missense variant G/A snv 2.8E-05 4.9E-05 0.010 1.000 1 2010 2010
dbSNP: rs104894141
rs104894141
1 1.000 10 102837311 stop gained C/T snv 0.010 1.000 1 1998 1998
dbSNP: rs104894142
rs104894142
3 0.882 0.200 10 102832566 missense variant G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs1250463562
rs1250463562
2 0.925 0.200 10 102830743 missense variant G/A snv 0.010 1.000 1 1992 1992
dbSNP: rs1269372676
rs1269372676
1 1.000 10 102830905 missense variant A/G snv 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs760695410
rs760695410
6 0.807 0.240 10 102832532 missense variant T/A snv 1.2E-05; 4.0E-06 0.010 1.000 1 2012 2012