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: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.050 1.000 5 2000 2013
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.040 1.000 4 2014 2018
dbSNP: rs35767
rs35767
IGF1 ; LOC105369944
13 0.763 0.360 12 102481791 upstream gene variant A/C;G;T snv 0.040 1.000 4 2015 2018
dbSNP: rs4988321
rs4988321
LRP5
4 0.851 0.160 11 68406721 missense variant G/A;C snv 3.8E-02 0.040 0.750 4 2005 2019
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.030 1.000 3 2009 2015
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.020 1.000 2 2013 2019
dbSNP: rs2273073
rs2273073
BMP2
3 0.882 0.120 20 6770235 missense variant T/C;G snv 2.4E-02 0.020 0.500 2 2006 2008
dbSNP: rs3751143
rs3751143
P2RX7 ; LOC105370032
12 0.742 0.480 12 121184501 missense variant A/C;G snv 0.19; 4.0E-06 0.020 1.000 2 2017 2018
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2012 2015
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2016 2016
dbSNP: rs1057317
rs1057317
TLR4
5 0.827 0.160 9 117715764 3 prime UTR variant C/A snv 0.010 1.000 1 2019 2019
dbSNP: rs10832915
rs10832915
SAA1
1 1.000 0.080 11 18269516 intron variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2016 2016
dbSNP: rs1181712311
rs1181712311
GPR42
1 1.000 0.080 19 35371499 missense variant C/T snv 1.5E-05 0.010 1.000 1 2013 2013
dbSNP: rs121909798
rs121909798
VDR
2 0.925 0.200 12 47846444 missense variant G/C snv 0.010 1.000 1 2015 2015
dbSNP: rs1219648
rs1219648
FGFR2
17 0.716 0.320 10 121586676 intron variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1255801434
rs1255801434
SLCO6A1
1 1.000 0.080 5 102438650 missense variant T/C snv 4.3E-06 0.010 1.000 1 2012 2012
dbSNP: rs12742784
rs12742784 		2 1.000 0.080 1 22355873 intergenic variant C/A;T snv 0.010 1.000 1 2020 2020
dbSNP: rs12775980
rs12775980
SVIL
1 1.000 0.080 10 29570927 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1440203097
rs1440203097
ADRA2B
1 1.000 0.080 2 96116013 missense variant G/A snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs145438594
rs145438594
VDR
1 1.000 0.080 12 47879073 missense variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1471403
rs1471403 		2 1.000 0.080 4 87854091 intergenic variant T/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs1554606
rs1554606
IL6 ; IL6-AS1
2 0.925 0.120 7 22729088 intron variant T/A;G snv 0.010 < 0.001 1 2019 2019
dbSNP: rs1718119
rs1718119
P2RX7 ; LOC105370032
21 0.689 0.520 12 121177300 missense variant G/A;T snv 0.35; 4.0E-06 0.010 < 0.001 1 2017 2017
dbSNP: rs1751492
rs1751492
LEPR
1 1.000 0.080 1 65526942 intron variant C/A;T snv 0.010 1.000 1 2016 2016