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: rs1028728
rs1028728
POSTN
3 0.925 0.040 13 37599679 upstream gene variant A/T snv 0.20 0.010 1.000 1 2011 2011
dbSNP: rs1042636
rs1042636
CASR
23 0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02 0.010 1.000 1 2014 2014
dbSNP: rs1042713
rs1042713
ADRB2
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.010 1.000 1 2017 2017
dbSNP: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.020 1.000 2 2001 2010
dbSNP: rs1057156731
rs1057156731
LMNA
3 0.925 0.120 1 156137730 missense variant T/A snv 0.010 1.000 1 2016 2016
dbSNP: rs10790162
rs10790162
BUD13
7 0.882 0.160 11 116768388 intron variant A/G;T snv 0.93 0.010 1.000 1 2017 2017
dbSNP: rs10808546
rs10808546 		7 8 125483576 intron variant C/T snv 0.39 0.700 1.000 1 2017 2017
dbSNP: rs10889332
rs10889332
DOCK7
4 1.000 0.120 1 62485187 3 prime UTR variant C/T snv 0.39 0.010 1.000 1 2016 2016
dbSNP: rs10911205
rs10911205
LAMC1
1 1 183040142 intron variant C/A snv 0.33 0.700 1.000 1 2017 2017
dbSNP: rs10911232
rs10911232
LAMC1
1 1 183083398 intron variant C/T snv 0.33 0.700 1.000 1 2017 2017
dbSNP: rs11122316
rs11122316
GALNT2
2 1.000 0.120 1 230101356 intron variant A/G snv 0.42 0.010 1.000 1 2016 2016
dbSNP: rs11202592
rs11202592
PTEN ; KLLN
5 0.851 0.200 10 87864461 5 prime UTR variant C/G snv 3.8E-03 1.4E-03 0.010 < 0.001 1 2013 2013
dbSNP: rs11206517
rs11206517
PCSK9
4 1.000 0.120 1 55060755 intron variant T/C;G snv 0.010 1.000 1 2016 2016
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 2015 2015
dbSNP: rs11542041
rs11542041
APOE
23 0.677 0.480 19 44908690 missense variant C/A;T snv 2.1E-05 0.040 0.750 4 1984 2004
dbSNP: rs11575937
rs11575937
LMNA
29 0.653 0.480 1 156136985 missense variant G/A;T snv 0.010 1.000 1 2000 2000
dbSNP: rs11576175
rs11576175
CTSS
2 1.000 1 150754918 intron variant G/A snv 7.2E-02 0.010 1.000 1 2013 2013
dbSNP: rs11634397
rs11634397 		2 1.000 0.080 15 80139880 downstream gene variant A/G snv 0.57 0.010 1.000 1 2015 2015
dbSNP: rs11635252
rs11635252
CRTC3
4 0.925 0.080 15 90528542 upstream gene variant T/C snv 0.88 0.010 1.000 1 2014 2014
dbSNP: rs1168013
rs1168013
DOCK7
6 1.000 0.120 1 62531167 intron variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1169288
rs1169288
HNF1A ; HNF1A-AS1
21 0.776 0.160 12 120978847 missense variant A/C;T snv 0.35 0.010 1.000 1 2009 2009
dbSNP: rs1169310
rs1169310
HNF1A ; C12orf43
3 12 121001630 3 prime UTR variant G/A snv 0.31 0.010 1.000 1 2014 2014
dbSNP: rs1169313
rs1169313
C12orf43
6 12 121004867 intron variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs11773845
rs11773845
CAV1
4 0.925 0.120 7 116551247 intron variant C/A snv 0.53 0.010 1.000 1 2018 2018
dbSNP: rs118204057
rs118204057
LPL
16 0.732 0.400 8 19954222 missense variant G/A;C snv 1.9E-04 0.030 1.000 3 1998 2020