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: rs4994
rs4994
ADRB3
65 0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 0.020 0.500 2 2001 2003
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: rs1137101
rs1137101
LEPR
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2017 2017
dbSNP: rs11615
rs11615
ERCC1
62 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.010 1.000 1 2017 2017
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2013 2013
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: rs1444332461
rs1444332461
ARSA
1 1.000 0.040 22 50627185 missense variant A/G snv 4.1E-06 0.010 1.000 1 2014 2014
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2008 2008
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: 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: rs200960801
rs200960801
ESR1
6 0.827 0.200 6 151944488 missense variant A/G snv 4.0E-06 0.010 < 0.001 1 2010 2010
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 1995 1995
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: rs4757268
rs4757268
PDE3B
6 0.827 0.120 11 14789216 synonymous variant A/G snv 0.63 0.64 0.010 1.000 1 2003 2003
dbSNP: rs632793
rs632793 		3 0.882 0.120 1 11850620 upstream gene variant A/G snv 0.45 0.010 1.000 1 2014 2014
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: rs879254840
rs879254840
LDLR ; MIR6886
5 0.827 0.120 19 11113322 missense variant A/G snv 0.010 1.000 1 1999 1999
dbSNP: rs9349379
rs9349379
PHACTR1
19 0.732 0.200 6 12903725 intron variant A/G snv 0.32 0.010 1.000 1 2019 2019
dbSNP: rs2306283
rs2306283
SLCO1B1
16 0.742 0.320 12 21176804 missense variant A/G;T snv 0.47 0.030 1.000 3 2010 2018
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
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: 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: rs3829462
rs3829462
LIPC
1 1.000 0.040 15 58560880 missense variant C/A;T snv 0.97 0.010 1.000 1 1999 1999
dbSNP: rs1800206
rs1800206
PPARA
35 0.641 0.640 22 46218377 missense variant C/G snv 4.3E-02 4.2E-02 0.020 1.000 2 2001 2013