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: rs11575937
rs11575937
LMNA
29 0.653 0.480 1 156136985 missense variant G/A;T snv 0.700 1.000 12 1991 2013
dbSNP: rs267607555
rs267607555
LMNA
6 0.807 0.280 1 156136009 missense variant C/T snv 7.0E-06 0.700 1.000 5 1990 2013
dbSNP: rs1137101
rs1137101
LEPR
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2019 2019
dbSNP: rs164147
rs164147
NOS1AP
3 0.882 0.080 1 162368607 3 prime UTR variant A/C snv 0.76 0.010 1.000 1 2016 2016
dbSNP: rs340874
rs340874
PROX1 ; PROX1-AS1
7 0.882 0.080 1 213985913 non coding transcript exon variant T/C snv 0.40 0.010 1.000 1 2014 2014
dbSNP: rs3738435
rs3738435
CHRM3
2 0.925 0.080 1 239907303 intron variant T/C snv 0.23 0.010 < 0.001 1 2011 2011
dbSNP: rs953686324
rs953686324
CLCNKB
7 0.851 0.160 1 16044506 frameshift variant -/G delins 4.3E-06 5.6E-05 0.700 0
dbSNP: rs1260326
rs1260326
GCKR
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.010 1.000 1 2008 2008
dbSNP: rs13412852
rs13412852
LPIN1
4 0.851 0.120 2 11774815 intron variant C/T snv 0.26 0.010 < 0.001 1 2012 2012
dbSNP: rs1447680989
rs1447680989
GCKR
1 1.000 0.040 2 27501147 missense variant G/A snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs561017686
rs561017686
NEUROD1 ; CERKL
4 0.882 0.120 2 181678138 missense variant G/A;C snv 8.0E-06; 8.4E-04 0.010 1.000 1 2008 2008
dbSNP: rs780094
rs780094
GCKR
62 0.658 0.400 2 27518370 intron variant T/C snv 0.67 0.010 1.000 1 2018 2018
dbSNP: rs1801282
rs1801282
PPARG
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.020 1.000 2 2006 2018
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.020 1.000 2 2006 2018
dbSNP: rs121909244
rs121909244
PPARG
11 0.776 0.160 3 12434111 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs2241766
rs2241766
ADIPOQ ; ADIPOQ-AS1
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.010 1.000 1 2006 2006
dbSNP: rs3856806
rs3856806
PPARG
41 0.637 0.440 3 12434058 synonymous variant C/T snv 0.13 0.11 0.010 1.000 1 2018 2018
dbSNP: rs4402960
rs4402960
IGF2BP2
21 0.724 0.400 3 185793899 intron variant G/T snv 0.38 0.010 1.000 1 2008 2008
dbSNP: rs534828104
rs534828104
AHSG
2 0.925 0.080 3 186618566 missense variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs7744
rs7744
MYD88
5 0.827 0.160 3 38142530 3 prime UTR variant A/G snv 0.13 0.010 1.000 1 2016 2016
dbSNP: rs10010131
rs10010131
WFS1
7 0.827 0.120 4 6291188 intron variant A/G snv 0.66 0.63 0.010 1.000 1 2008 2008
dbSNP: rs11932595
rs11932595
CLOCK
12 0.827 0.160 4 55457430 intron variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1801260
rs1801260
CLOCK ; TMEM165
28 0.695 0.280 4 55435202 3 prime UTR variant A/G snv 0.25 0.010 1.000 1 2019 2019
dbSNP: rs4580704
rs4580704
CLOCK
13 0.790 0.200 4 55460540 intron variant G/C snv 0.69 0.010 1.000 1 2019 2019
dbSNP: rs10515074
rs10515074
PIK3R1
2 0.925 0.120 5 68270365 intron variant A/G;T snv 0.010 1.000 1 2017 2017