Source: ALL
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: rs121909091
rs121909091
DNM2
4 0.851 0.120 19 10798543 missense variant C/T snv 0.800 1.000 13 2005 2016
dbSNP: rs587783595
rs587783595
DNM2
3 0.882 0.120 19 10812271 missense variant G/A;T snv 0.800 1.000 11 2005 2012
dbSNP: rs121909089
rs121909089
DNM2
3 0.882 0.120 19 10793833 missense variant G/A;T snv 0.800 1.000 10 2005 2012
dbSNP: rs121909090
rs121909090
DNM2
3 0.882 0.120 19 10793832 missense variant C/T snv 7.0E-06 0.800 1.000 10 2005 2012
dbSNP: rs121909092
rs121909092
DNM2
4 0.882 0.120 19 10793829 missense variant G/A snv 0.800 1.000 10 2005 2012
dbSNP: rs121909095
rs121909095
DNM2
3 0.882 0.120 19 10823862 missense variant C/G;T snv 0.800 1.000 10 2005 2012
dbSNP: rs1555715869
rs1555715869
DNM2
2 0.925 0.120 19 10823859 missense variant C/A snv 0.700 1.000 9 2005 2012
dbSNP: rs587783596
rs587783596
DNM2
1 1.000 0.080 19 10812273 missense variant A/C;G snv 0.700 1.000 9 2005 2012
dbSNP: rs587783597
rs587783597
DNM2
2 0.925 0.080 19 10823868 missense variant T/C snv 0.700 1.000 9 2005 2012
dbSNP: rs587783598
rs587783598
DNM2
2 0.925 0.080 19 10823886 missense variant C/G snv 0.700 1.000 9 2005 2012
dbSNP: rs879254086
rs879254086
DNM2
1 1.000 0.080 19 10819986 missense variant G/A snv 0.700 1.000 9 2005 2012
dbSNP: rs121434509
rs121434509
MTMR14
2 1.000 0.080 3 9684627 missense variant G/A snv 8.0E-06 0.700 1.000 1 2006 2006
dbSNP: rs121434510
rs121434510
MTMR14
2 1.000 0.080 3 9689034 missense variant A/G snv 8.0E-06 2.1E-05 0.700 1.000 1 2006 2006