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: rs1800947
rs1800947
CRP
28 0.683 0.440 1 159713648 splice region variant C/A;G;T snv 4.4E-05; 5.1E-02; 4.0E-06 0.020 1.000 2 2018 2019
dbSNP: rs10914456
rs10914456
HCRTR1
2 1.000 0.040 1 31622570 intron variant T/C snv 0.51 0.010 1.000 1 2019 2019
dbSNP: rs11265263
rs11265263 		2 1 159740727 intergenic variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1200746244
rs1200746244
MTHFR
11 0.807 0.080 1 11801287 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs12137927
rs12137927
PER3
1 1 7811169 intron variant T/C snv 0.20 0.010 1.000 1 2015 2015
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 2016 2016
dbSNP: rs228644
rs228644
PER3
2 1.000 0.080 1 7806023 intron variant G/A snv 0.36 0.010 1.000 1 2015 2015
dbSNP: rs228682
rs228682
PER3
2 1 7796286 intron variant T/C snv 0.35 0.010 1.000 1 2015 2015
dbSNP: rs2794521
rs2794521
CRP
15 0.742 0.480 1 159715306 upstream gene variant C/T snv 0.78 0.010 1.000 1 2019 2019
dbSNP: rs387906315
rs387906315
GBA
8 0.790 0.160 1 155240660 frameshift variant -/C delins 5.2E-05 5.6E-05 0.010 1.000 1 2020 2020
dbSNP: rs421016
rs421016
GBA
30 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.010 1.000 1 2020 2020
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 2008 2008
dbSNP: rs757522886
rs757522886
MTR
1 1 236885125 missense variant C/T snv 8.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs757891309
rs757891309
MTR
4 0.882 0.120 1 236850389 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs76763715
rs76763715
GBA
35 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.010 1.000 1 2020 2020
dbSNP: rs80356773
rs80356773
GBA
3 0.925 0.080 1 155235002 missense variant C/T snv 0.010 1.000 1 2020 2020
dbSNP: rs16944
rs16944
IL1B
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.030 1.000 3 2015 2019
dbSNP: rs1143634
rs1143634
IL1B
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.010 1.000 1 2018 2018
dbSNP: rs1143643
rs1143643
IL1B
10 0.790 0.320 2 112830725 intron variant C/T snv 0.29 0.010 1.000 1 2016 2016
dbSNP: rs7582472
rs7582472 		1 2 133887223 regulatory region variant T/C snv 0.21 0.010 1.000 1 2012 2012
dbSNP: rs53576
rs53576
CAV3 ; OXTR
42 0.641 0.320 3 8762685 intron variant A/G;T snv 0.020 1.000 2 2019 2020
dbSNP: rs1409851868
rs1409851868
EPHA3
6 0.882 0.080 3 89399325 missense variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs2239547
rs2239547
ITIH4
6 0.882 0.040 3 52821213 intron variant T/C snv 0.27 0.010 1.000 1 2018 2018
dbSNP: rs2254298
rs2254298
CAV3 ; OXTR
23 0.701 0.200 3 8760542 intron variant G/A snv 0.16 0.010 1.000 1 2011 2011
dbSNP: rs2535629
rs2535629
ITIH3
9 0.827 0.040 3 52799203 intron variant G/A;C snv 0.010 < 0.001 1 2018 2018