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: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.020 0.500 2 2016 2017
dbSNP: rs34336420
rs34336420
KLF11
4 0.882 0.080 2 10047996 missense variant C/G;T snv 4.0E-06; 3.3E-03 0.020 0.500 2 2005 2006
dbSNP: rs35927125
rs35927125
KLF11
3 0.925 0.080 2 10046292 missense variant A/G;T snv 9.3E-02 0.020 0.500 2 2006 2013
dbSNP: rs4588
rs4588
GC
53 0.597 0.720 4 71752606 missense variant G/A;T snv 1.6E-05; 0.25 0.020 1.000 2 2015 2018
dbSNP: rs4607517
rs4607517
GCK
8 0.882 0.080 7 44196069 intron variant G/A;C snv 0.020 1.000 2 2010 2016
dbSNP: rs587783672
rs587783672
KCNJ11
5 0.882 0.080 11 17387413 missense variant C/T snv 4.0E-06 0.020 1.000 2 2007 2012
dbSNP: rs753285226
rs753285226
HNF4A
5 0.882 0.080 20 44406084 missense variant C/A;T snv 4.0E-06 0.020 1.000 2 2016 2019
dbSNP: rs75493593
rs75493593
SLC16A11
3 0.925 0.080 17 7041768 missense variant G/C;T snv 8.0E-06; 5.4E-02 0.020 1.000 2 2016 2019
dbSNP: rs757110
rs757110
ABCC8
6 0.851 0.080 11 17396930 missense variant C/A;T snv 0.64; 8.0E-06 0.020 1.000 2 2007 2015
dbSNP: rs7754840
rs7754840
CDKAL1
9 0.807 0.200 6 20661019 intron variant G/A;C;T snv 0.020 1.000 2 2011 2016
dbSNP: rs80356616
rs80356616
KCNJ11
19 0.732 0.360 11 17387917 missense variant C/T snv 0.020 0.500 2 2006 2012
dbSNP: rs80356624
rs80356624
KCNJ11
16 0.752 0.240 11 17387490 missense variant C/A;T snv 0.020 0.500 2 2006 2012
dbSNP: rs8192284
rs8192284
IL6R
19 0.724 0.720 1 154454494 missense variant A/C;T snv 0.020 1.000 2 2007 2009
dbSNP: rs952497863
rs952497863
HNF4A
4 0.925 0.080 20 44414511 missense variant C/T snv 0.020 1.000 2 2014 2016
dbSNP: rs10084572
rs10084572
LOC105372829
3 1.000 0.040 21 43992991 downstream gene variant T/A;C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs10116772
rs10116772
GLIS3
4 0.882 0.080 9 4290541 intron variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1042488900
rs1042488900
ATF6
2 1.000 0.040 1 161802188 synonymous variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs1042615
rs1042615
AVPR1A
2 1.000 0.040 12 63150429 missense variant A/C;G;T snv 0.60; 1.2E-05 0.010 1.000 1 2009 2009
dbSNP: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 < 0.001 1 2001 2001
dbSNP: rs1044498
rs1044498
ENPP1
15 0.752 0.360 6 131851228 missense variant A/C;G snv 0.19 0.010 1.000 1 2011 2011
dbSNP: rs10489177
rs10489177
C1orf112 ; METTL18
4 0.925 0.120 1 169793666 missense variant T/A;G snv 4.1E-06; 0.19 0.010 1.000 1 2014 2014
dbSNP: rs104894014
rs104894014
GCK
3 0.925 0.080 7 44145167 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs10497721
rs10497721
TMEFF2 ; LOC101927366
2 1.000 0.040 2 192049636 intron variant C/A;T snv 0.700 1.000 1 2007 2007
dbSNP: rs1056534
rs1056534
TBCD ; FN3K
5 0.882 0.200 17 82750725 synonymous variant C/A;G;T snv 0.62 0.010 1.000 1 2014 2014
dbSNP: rs1057520504
rs1057520504
HNF1A
4 0.882 0.080 12 120994238 missense variant G/A snv 0.010 1.000 1 2009 2009