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: rs78311289
rs78311289
FGFR3
25 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs80356814
rs80356814
LMNA
15 0.732 0.320 1 156138697 synonymous variant C/T snv 8.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs866477740
rs866477740
IGFALS ; SPSB3
1 1.000 0.040 16 1792152 missense variant A/G snv 0.010 1.000 1 2013 2013
dbSNP: rs1057518775
rs1057518775
KCNJ11
4 0.851 0.160 11 17387907 missense variant G/A;C snv 0.700 0
dbSNP: rs587777732
rs587777732
HNF4A ; MIR3646
9 0.763 0.240 20 44406195 missense variant C/T snv 0.700 0
dbSNP: rs886041065
rs886041065
ASXL2
43 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
dbSNP: rs193922479
rs193922479
HNF4A
2 0.925 0.080 20 44424116 missense variant C/A;T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs121913564
rs121913564
MC4R
3 0.882 0.080 18 60371403 missense variant A/C snv 2.0E-05 1.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs373115603
rs373115603
SDS
1 1.000 0.040 12 113398557 missense variant G/A snv 1.3E-05 2.1E-05 0.010 1.000 1 2013 2013
dbSNP: rs1033656351
rs1033656351
P2RX4
7 0.827 0.160 12 121232997 missense variant G/A snv 1.6E-05 2.8E-05 0.010 1.000 1 2015 2015
dbSNP: rs776234219
rs776234219
IGF1 ; LINC02456
1 1.000 0.040 12 102419531 missense variant G/A snv 1.6E-05 3.5E-05 0.010 1.000 1 2013 2013
dbSNP: rs146695489
rs146695489
ABCC8
2 0.925 0.160 11 17470170 missense variant T/C snv 2.5E-04 5.6E-05 0.010 1.000 1 2013 2013
dbSNP: rs79874540
rs79874540
HTR2B ; PSMD1
4 0.925 0.080 2 231123707 stop gained G/A snv 1.5E-03 1.2E-03 0.010 1.000 1 2016 2016
dbSNP: rs268
rs268
LPL
41 0.637 0.480 8 19956018 missense variant A/G snv 1.3E-02 1.3E-02 0.010 1.000 1 1996 1996
dbSNP: rs148969251
rs148969251
ARHGEF12
1 1.000 0.040 11 120480110 missense variant A/G snv 3.3E-02 1.3E-02 0.010 1.000 1 2006 2006
dbSNP: rs35568725
rs35568725
PLIN2
3 0.925 0.080 9 19119676 missense variant A/G snv 4.1E-02 4.0E-02 0.010 1.000 1 2016 2016
dbSNP: rs11171806
rs11171806
IL23A
7 0.807 0.360 12 56339747 synonymous variant G/A snv 4.9E-02 4.5E-02 0.010 1.000 1 2019 2019
dbSNP: rs5742612
rs5742612
IGF1 ; LOC105369944
11 0.752 0.440 12 102481086 intron variant A/G snv 5.6E-02 0.010 1.000 1 2017 2017
dbSNP: rs4629571
rs4629571
HMGCR ; CERT1
2 0.925 0.160 5 75362479 intron variant A/G snv 8.7E-02 0.010 1.000 1 2010 2010
dbSNP: rs1801282
rs1801282
PPARG
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.090 1.000 9 1999 2013
dbSNP: rs2918419
rs2918419
NR3C1
2 0.925 0.040 5 143342788 intron variant T/C snv 0.15 0.010 1.000 1 2008 2008
dbSNP: rs10423928
rs10423928
GIPR
12 0.807 0.200 19 45679046 intron variant T/A snv 0.19 0.010 1.000 1 2012 2012
dbSNP: rs2066808
rs2066808
STAT2
8 0.807 0.280 12 56344189 intron variant A/G snv 0.21 0.010 1.000 1 2019 2019
dbSNP: rs12970134
rs12970134 		13 0.790 0.280 18 60217517 intergenic variant G/A snv 0.21 0.010 1.000 1 2011 2011
dbSNP: rs2014355
rs2014355
ACADS
4 0.925 0.120 12 120737721 non coding transcript exon variant T/C snv 0.22 0.010 1.000 1 2011 2011