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: rs1416580204
rs1416580204
MOK
49 0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs2297235
rs2297235
GSTO2
11 0.752 0.320 10 104274733 5 prime UTR variant A/G snv 0.22 0.010 1.000 1 2004 2004
dbSNP: rs360719
rs360719
IL18 ; TEX12 ; LOC107987164
7 0.790 0.480 11 112165426 non coding transcript exon variant A/G snv 0.25 0.010 1.000 1 2012 2012
dbSNP: rs36117895
rs36117895
ATG7
1 1.000 0.120 3 11358545 missense variant T/C snv 3.2E-02 3.9E-02 0.020 1.000 2 2010 2013
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2002 2002
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 2002 2002
dbSNP: rs771845093
rs771845093
MFN2
3 0.925 0.160 1 12005903 missense variant G/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs7652589
rs7652589 		13 0.732 0.400 3 122170241 downstream gene variant A/G snv 0.60 0.020 1.000 2 2016 2019
dbSNP: rs1801725
rs1801725
CASR
39 0.633 0.600 3 122284910 missense variant G/T snv 0.13 0.11 0.020 1.000 2 2018 2019
dbSNP: rs1801282
rs1801282
PPARG
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.010 1.000 1 2014 2014
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.010 1.000 1 2014 2014
dbSNP: rs10934657
rs10934657
KALRN
1 1.000 0.120 3 124093989 intron variant T/C snv 0.60 0.010 1.000 1 2012 2012
dbSNP: rs20541
rs20541
IL13 ; TH2LCRR
52 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 0.010 1.000 1 2013 2013
dbSNP: rs10881578
rs10881578
RXRA
2 0.925 0.240 9 134340689 intron variant A/G snv 0.32 0.010 1.000 1 2018 2018
dbSNP: rs756573441
rs756573441
CALD1
1 1.000 0.120 7 134933359 missense variant A/G;T snv 4.2E-06 0.010 1.000 1 2005 2005
dbSNP: rs1806201
rs1806201
GRIN2B
8 0.776 0.200 12 13564574 synonymous variant G/A snv 0.32 0.24 0.020 1.000 2 2007 2010
dbSNP: rs2292779
rs2292779
AGO2
4 0.851 0.320 8 140551294 intron variant G/C;T snv 0.57; 4.9E-06 0.010 1.000 1 2018 2018
dbSNP: rs73786719
rs73786719
ADGB
1 1.000 0.120 6 146716848 intron variant C/A snv 1.7E-02 3.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs2234759
rs2234759
NPY2R ; LOC107986321
1 1.000 0.120 4 155208405 non coding transcript exon variant A/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs3212227
rs3212227
IL12B
65 0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26 0.020 1.000 2 2012 2013
dbSNP: rs568408
rs568408
IL12A ; IL12A-AS1
29 0.649 0.600 3 159995680 3 prime UTR variant G/A snv 0.16 0.030 1.000 3 2012 2017
dbSNP: rs71358386
rs71358386
NCOR1
1 1.000 0.120 17 16047840 intron variant T/C snv 4.1E-02 0.010 1.000 1 2018 2018
dbSNP: rs12668183
rs12668183 		1 1.000 0.120 7 16455781 regulatory region variant T/C snv 0.34 0.700 1.000 1 2018 2018
dbSNP: rs200161705
rs200161705
NEK1
5 0.882 0.160 4 169585374 missense variant C/A;T snv 6.0E-05; 2.3E-03 0.010 1.000 1 2019 2019
dbSNP: rs4918
rs4918
AHSG
12 0.763 0.400 3 186620593 missense variant G/A;C snv 0.67 0.010 < 0.001 1 2007 2007