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: rs2186607
rs2186607
TRPC6
10 0.776 0.080 11 101785666 intron variant T/A snv 0.51 0.700 1.000 1 2019 2019
dbSNP: rs188096
rs188096
SLC10A2
1 1.000 0.080 13 103052694 missense variant A/C snv 0.85 0.89 0.010 1.000 1 2008 2008
dbSNP: rs41281678
rs41281678
SLC10A2
1 1.000 0.080 13 103052700 synonymous variant G/A snv 1.9E-02 2.7E-02 0.010 1.000 1 2008 2008
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.020 1.000 2 2005 2006
dbSNP: rs1391441
rs1391441
TET2 ; TET2-AS1
11 0.763 0.240 4 105207603 intron variant G/A snv 0.70 0.700 1.000 1 2019 2019
dbSNP: rs1078643
rs1078643
TMEM238L ; TMEM220-AS1
10 0.776 0.080 17 10803924 missense variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs768623239
rs768623239
GSTM1 ; GSTM2
26 0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05 0.010 1.000 1 2005 2005
dbSNP: rs1376251
rs1376251
PRH1 ; PRR4 ; TAS2R14 ; TAS2R50 ; PRH1-PRR4 ; PRH1-TAS2R14
3 0.882 0.160 12 10986253 missense variant C/T snv 0.40 0.28 0.010 1.000 1 2013 2013
dbSNP: rs8000189
rs8000189
COL4A2
10 0.776 0.080 13 110423534 intron variant C/T snv 0.61 0.700 1.000 1 2019 2019
dbSNP: rs10980628
rs10980628
LPAR1
10 0.776 0.080 9 110909123 intron variant T/C snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs3087967
rs3087967
C11orf53
10 0.776 0.080 11 111286111 3 prime UTR variant T/C snv 0.72 0.700 1.000 1 2019 2019
dbSNP: rs597808
rs597808
ATXN2
19 0.742 0.200 12 111535554 intron variant A/G snv 0.67 0.700 1.000 1 2019 2019
dbSNP: rs201745983
rs201745983
ALDH2
14 0.752 0.200 12 111783219 missense variant G/A snv 6.8E-05 7.7E-05 0.010 < 0.001 1 2011 2011
dbSNP: rs671
rs671
ALDH2
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.010 1.000 1 2011 2011
dbSNP: rs12246635
rs12246635
VTI1A
10 0.776 0.080 10 112528860 intron variant T/C snv 0.13 0.700 1.000 1 2019 2019
dbSNP: rs755229494
rs755229494
APC
10 0.776 0.080 5 112761654 intron variant A/G snv 9.6E-04 0.700 1.000 1 2019 2019
dbSNP: rs762117133
rs762117133
APC
3 1.000 0.080 5 112801324 missense variant C/A;T snv 2.4E-05 0.010 1.000 1 2009 2009
dbSNP: rs770649674
rs770649674
APC
6 0.807 0.120 5 112827177 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.020 1.000 2 2005 2005
dbSNP: rs1801155
rs1801155
APC
42 0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 0.020 1.000 2 2005 2005
dbSNP: rs1801166
rs1801166
APC
17 0.732 0.200 5 112839543 missense variant G/C snv 4.4E-03 5.6E-03 0.050 1.000 5 2000 2009
dbSNP: rs11196170
rs11196170
TCF7L2
10 0.776 0.080 10 112962862 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs13086367
rs13086367 		10 0.776 0.080 3 113185041 downstream gene variant A/G snv 0.38 0.700 1.000 1 2019 2019
dbSNP: rs72942485
rs72942485
BOC
10 0.776 0.080 3 113280713 intron variant G/A snv 2.7E-02 4.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs1427760
rs1427760 		10 0.776 0.080 12 114662909 upstream gene variant T/C snv 0.49 0.700 1.000 1 2019 2019