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: rs505151
rs505151
PCSK9
18 0.732 0.360 1 55063514 missense variant G/A snv 0.95 0.90 0.010 1.000 1 2018 2018
dbSNP: rs316019
rs316019
SLC22A2
8 0.790 0.360 6 160249250 missense variant A/C snv 0.90 0.89 0.010 1.000 1 2019 2019
dbSNP: rs562556
rs562556
PCSK9
8 0.827 0.280 1 55058564 missense variant G/A snv 0.86 0.83 0.010 1.000 1 2018 2018
dbSNP: rs683369
rs683369
SLC22A1
7 0.807 0.360 6 160130172 missense variant G/A;C;T snv 4.0E-06; 0.83; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1051931
rs1051931
PLA2G7
19 0.708 0.400 6 46705206 missense variant A/G snv 0.81 0.79 0.010 < 0.001 1 2017 2017
dbSNP: rs10407022
rs10407022
AMH ; MIR4321
3 0.882 0.200 19 2249478 missense variant G/T snv 0.77 0.74 0.030 0.333 3 2008 2019
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2008 2008
dbSNP: rs689
rs689
INS ; INS-IGF2
9 0.776 0.280 11 2160994 splice region variant A/T snv 0.73 0.60 0.010 1.000 1 2015 2015
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.020 1.000 2 2017 2018
dbSNP: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 1.000 1 2013 2013
dbSNP: rs1801704
rs1801704
ADRB2
3 0.882 0.200 5 148826812 5 prime UTR variant C/T snv 0.68 0.68 0.010 1.000 1 2013 2013
dbSNP: rs523349
rs523349
SRD5A2
21 0.689 0.440 2 31580636 missense variant G/A;C;T snv 0.66; 4.9E-06 0.020 1.000 2 2006 2011
dbSNP: rs6523
rs6523
INSL3
4 0.882 0.200 19 17821329 missense variant T/C snv 0.65 0.70 0.010 1.000 1 2016 2016
dbSNP: rs5219
rs5219
KCNJ11
25 0.701 0.360 11 17388025 stop gained T/A;C snv 0.64 0.020 < 0.001 2 2007 2008
dbSNP: rs628031
rs628031
SLC22A1
8 0.807 0.280 6 160139813 missense variant A/C;G snv 5.3E-05; 0.63 0.010 1.000 1 2019 2019
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 < 0.001 1 2019 2019
dbSNP: rs2271194
rs2271194
ERBB3
1 1.000 0.120 12 56083910 splice region variant A/T snv 0.63 0.53 0.700 1.000 1 2018 2018
dbSNP: rs2293275
rs2293275
LHCGR ; GTF2A1L ; STON1-GTF2A1L
4 0.851 0.160 2 48694236 missense variant T/C snv 0.61 0.51 0.050 1.000 5 2012 2019
dbSNP: rs1056917
rs1056917
LHB ; RUVBL2
1 1.000 0.120 19 49016209 synonymous variant A/G snv 0.61 0.65 0.010 1.000 1 2019 2019
dbSNP: rs6166
rs6166
FSHR
17 0.708 0.240 2 48962782 missense variant C/T snv 0.57 0.57 0.090 0.667 9 2001 2017
dbSNP: rs6165
rs6165
FSHR
14 0.724 0.160 2 48963902 missense variant C/G;T snv 4.0E-06; 0.55 0.100 0.700 10 2001 2017
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 < 0.001 1 2015 2015
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 1.000 1 2005 2005
dbSNP: rs7041
rs7041
GC
64 0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 0.020 1.000 2 2017 2018
dbSNP: rs7975232
rs7975232
VDR
56 0.576 0.760 12 47845054 intron variant C/A snv 0.51 0.55 0.050 0.600 5 2015 2019