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: rs10455872
rs10455872
LPA
33 0.662 0.320 6 160589086 intron variant A/G snv 4.3E-02 0.010 1.000 1 2019 2019
dbSNP: rs10748835
rs10748835
AS3MT ; BORCS7-ASMT ; LOC107984265
5 0.827 0.160 10 102900499 non coding transcript exon variant G/A snv 0.41 0.010 1.000 1 2012 2012
dbSNP: rs11066280
rs11066280
HECTD4
27 0.742 0.280 12 112379979 intron variant T/A snv 7.0E-03 0.010 1.000 1 2014 2014
dbSNP: rs11542041
rs11542041
APOE
23 0.677 0.480 19 44908690 missense variant C/A;T snv 2.1E-05 0.010 1.000 1 1988 1988
dbSNP: rs11575937
rs11575937
LMNA
29 0.653 0.480 1 156136985 missense variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs12229654
rs12229654 		20 0.763 0.320 12 110976657 intergenic variant T/G snv 4.8E-03 0.010 1.000 1 2014 2014
dbSNP: rs1256046734
rs1256046734
LEPR
12 0.763 0.280 1 65621409 missense variant A/G snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs13281615
rs13281615
POU5F1B ; CASC8 ; PCAT1 ; CASC21
18 0.716 0.360 8 127343372 intron variant A/G snv 0.43 0.010 1.000 1 2017 2017
dbSNP: rs1341991169
rs1341991169
LPL
1 1.000 0.040 8 19939444 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs17249754
rs17249754
ATP2B1
12 0.882 0.120 12 89666809 intron variant G/A snv 0.15 0.010 1.000 1 2014 2014
dbSNP: rs174537
rs174537
MYRF ; TMEM258
23 0.708 0.400 11 61785208 non coding transcript exon variant G/T snv 0.28 0.010 1.000 1 2011 2011
dbSNP: rs174547
rs174547
FADS1 ; FADS2
33 0.742 0.240 11 61803311 intron variant T/C snv 0.28 0.010 1.000 1 2012 2012
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.010 < 0.001 1 2011 2011
dbSNP: rs1941404
rs1941404
NNMT
3 0.882 0.120 11 114298316 non coding transcript exon variant A/G snv 0.59 0.010 1.000 1 2016 2016
dbSNP: rs198388
rs198388
NPPB
4 0.851 0.160 1 11857283 downstream gene variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs198389
rs198389
NPPB
10 0.776 0.240 1 11859214 upstream gene variant A/G snv 0.39 0.010 1.000 1 2014 2014
dbSNP: rs2046210
rs2046210 		21 0.708 0.280 6 151627231 intergenic variant G/A snv 0.41 0.010 1.000 1 2017 2017
dbSNP: rs2071410
rs2071410
FURIN
7 0.882 0.160 15 90877710 intron variant C/A;G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs2107595
rs2107595 		15 0.732 0.280 7 19009765 regulatory region variant G/A snv 0.19 0.010 1.000 1 2016 2016
dbSNP: rs2222823
rs2222823
MYLK
4 0.925 0.080 3 123885940 upstream gene variant T/A snv 0.14 0.010 1.000 1 2012 2012
dbSNP: rs2523608
rs2523608
HLA-B ; MIR6891
6 0.925 0.040 6 31354782 non coding transcript exon variant G/A snv 0.19 0.010 1.000 1 2019 2019
dbSNP: rs2811712
rs2811712
CDKN2B-AS1
5 0.882 0.080 9 21998036 intron variant G/A snv 0.85 0.010 1.000 1 2012 2012
dbSNP: rs2854744
rs2854744
IGFBP3
20 0.695 0.520 7 45921476 intron variant G/T snv 0.48 0.010 1.000 1 2015 2015
dbSNP: rs3803662
rs3803662
CASC16
25 0.662 0.440 16 52552429 non coding transcript exon variant A/G snv 0.63 0.010 1.000 1 2017 2017
dbSNP: rs4713518
rs4713518
TSBP1 ; TSBP1-AS1
3 0.925 0.160 6 32289560 intron variant A/G;T snv 0.010 1.000 1 2019 2019