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 0.720 1.000 2 2016 2018
dbSNP: rs121909089
rs121909089
DNM2
3 0.882 0.120 19 10793833 missense variant G/A;T snv 0.710 1.000 1 2016 2016
dbSNP: rs121909090
rs121909090
DNM2
3 0.882 0.120 19 10793832 missense variant C/T snv 7.0E-06 0.710 1.000 1 2014 2014
dbSNP: rs587783595
rs587783595
DNM2
3 0.882 0.120 19 10812271 missense variant G/A;T snv 0.710 1.000 1 2016 2016
dbSNP: rs1553742630
rs1553742630
TTN ; TTN-AS1
2 1.000 0.080 2 178633900 frameshift variant -/C ins 0.700 1.000 1 2015 2015
dbSNP: rs794729338
rs794729338
TTN ; TTN-AS1
2 1.000 0.080 2 178574146 stop gained CATATGC/TA delins 0.700 1.000 1 2012 2012
dbSNP: rs121909092
rs121909092
DNM2
4 0.882 0.120 19 10793829 missense variant G/A snv 0.700 0
dbSNP: rs121909095
rs121909095
DNM2
3 0.882 0.120 19 10823862 missense variant C/G;T snv 0.700 0
dbSNP: rs587783594
rs587783594
DNM2
1 1.000 0.080 19 10793851 missense variant T/A snv 0.700 0
dbSNP: rs587783597
rs587783597
DNM2
2 0.925 0.080 19 10823868 missense variant T/C snv 0.700 0
dbSNP: rs587783598
rs587783598
DNM2
2 0.925 0.080 19 10823886 missense variant C/G snv 0.700 0
dbSNP: rs587783752
rs587783752
MTM1
2 0.925 0.080 X 150657854 frameshift variant AA/-;AAA delins 0.700 0
dbSNP: rs132630304
rs132630304
MTM1
3 0.882 0.080 X 150598660 missense variant C/G;T snv 0.010 1.000 1 2012 2012