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: rs140085544
rs140085544
ANK1
1 1.000 0.080 8 41716970 missense variant C/T snv 6.8E-04 1.0E-03 0.700 1.000 2 1996 2000
dbSNP: rs137852831
rs137852831
ANK1 ; MIR486-1
1 1.000 0.080 8 41661923 stop gained G/A snv 7.0E-06 0.700 1.000 1 1998 1998
dbSNP: rs777701149
rs777701149
ANK1
1 1.000 0.080 8 41684619 stop gained G/A snv 7.0E-06 0.700 1.000 1 2003 2003
dbSNP: rs786205243
rs786205243
ANK1
2 0.925 0.080 8 41708992 intron variant C/T snv 0.700 1.000 1 2007 2007
dbSNP: rs137852829
rs137852829
ANK1
1 1.000 0.080 8 41672445 stop gained C/A;T snv 0.700 0
dbSNP: rs137852830
rs137852830
ANK1
1 1.000 0.080 8 41668498 stop gained C/T snv 0.700 0
dbSNP: rs1554522035
rs1554522035
ANK1
1 1.000 0.080 8 41668509 stop gained G/A snv 0.700 0
dbSNP: rs1554567249
rs1554567249
ANK1
1 1.000 0.080 8 41714256 splice acceptor variant T/G snv 0.700 0
dbSNP: rs1554578304
rs1554578304
ANK1
1 1.000 0.080 8 41725839 frameshift variant G/- del 0.700 0
dbSNP: rs1554627073
rs1554627073
ANK1 ; LOC105379392
1 1.000 0.080 8 41797538 start lost T/C snv 0.700 0
dbSNP: rs1563502820
rs1563502820
ANK1
1 1.000 0.080 8 41706211 stop gained G/A snv 0.700 0
dbSNP: rs397514029
rs397514029
ANK1
1 1.000 0.080 8 41715734 frameshift variant -/G delins 0.700 0
dbSNP: rs1333049
rs1333049
CDKN2B-AS1
60 0.614 0.520 9 22125504 intron variant G/C snv 0.41 0.010 1.000 1 2017 2017
dbSNP: rs3812718
rs3812718
SCN1A ; SCN1A-AS1
8 0.776 0.240 2 166053034 splice region variant C/T snv 0.48 0.010 < 0.001 1 2012 2012
dbSNP: rs704180
rs704180
ABCC9
6 0.807 0.240 12 21841177 intron variant A/G snv 0.55 0.010 1.000 1 2016 2016
dbSNP: rs73069071
rs73069071
IAPP ; SLCO1A2
6 0.807 0.240 12 21357370 intron variant T/C snv 0.14 0.010 1.000 1 2016 2016