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: rs387907211
rs387907211
ABCC9
1 1.000 0.200 12 21908099 missense variant G/A snv 0.810 1.000 4 2012 2018
dbSNP: rs387907227
rs387907227
ABCC9
1 1.000 0.200 12 21842440 missense variant C/A;T snv 0.800 1.000 4 2012 2015
dbSNP: rs387907208
rs387907208
ABCC9
5 0.851 0.200 12 21842327 missense variant G/A;C snv 0.800 1.000 3 2012 2015
dbSNP: rs387907209
rs387907209
ABCC9
2 0.925 0.200 12 21842326 missense variant C/G;T snv 4.0E-06 0.800 1.000 3 2012 2015
dbSNP: rs387907210
rs387907210
ABCC9
1 1.000 0.200 12 21844884 missense variant C/T snv 0.800 1.000 3 2012 2015
dbSNP: rs387907228
rs387907228
ABCC9
2 0.925 0.200 12 21842441 missense variant G/A snv 0.800 1.000 3 2012 2015
dbSNP: rs387907229
rs387907229
ABCC9
1 1.000 0.200 12 21845641 missense variant A/G snv 0.800 1.000 3 2012 2015
dbSNP: rs387907230
rs387907230
ABCC9
1 1.000 0.200 12 21933888 missense variant G/A snv 0.800 1.000 3 2012 2015
dbSNP: rs606231263
rs606231263
KCNJ8 ; LOC105369689
1 1.000 0.200 12 21773424 missense variant C/T snv 0.720 0.500 2 2013 2018
dbSNP: rs1165205076
rs1165205076
ABCC9
1 1.000 0.200 12 21910852 missense variant C/A snv 0.700 1.000 3 2012 2015
dbSNP: rs1057516044
rs1057516044
ABCC9
9 0.851 0.240 12 21913005 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs12298510
rs12298510
ABCC9 ; LOC105369689
1 1.000 0.200 12 21828977 missense variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs606231264
rs606231264
KCNJ8 ; LOC105369689
1 1.000 0.200 12 21766472 missense variant A/T snv 0.700 0
dbSNP: rs761784169
rs761784169
ABCC9 ; LOC105369689
3 0.882 0.200 12 21805251 frameshift variant -/A ins 4.0E-06; 4.0E-06; 5.4E-04 0.700 0