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: rs11066001
rs11066001
BRAP
15 0.763 0.360 12 111681367 intron variant T/C snv 5.8E-03 0.010 < 0.001 1 2011 2011
dbSNP: rs121909613
rs121909613
FGA
5 0.882 0.160 4 154585712 splice acceptor variant G/A;C;T snv 4.8E-05; 4.0E-06 0.010 < 0.001 1 2010 2010
dbSNP: rs3732378
rs3732378
CX3CR1
48 0.620 0.720 3 39265671 missense variant G/A snv 0.14 0.12 0.010 < 0.001 1 2003 2003
dbSNP: rs5985
rs5985
F13A1
20 0.724 0.280 6 6318562 missense variant C/A;T snv 0.20; 2.4E-05 0.010 < 0.001 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 0.060 1.000 6 2005 2016
dbSNP: rs10757274
rs10757274
CDKN2B-AS1
22 0.701 0.320 9 22096056 intron variant A/G snv 0.41 0.020 1.000 2 2009 2013
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.020 1.000 2 2015 2016
dbSNP: rs7903146
rs7903146
TCF7L2
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.710 1.000 2 2019 2020
dbSNP: rs10046574
rs10046574
CNOT4
1 7 135485722 intron variant C/T snv 7.4E-02 0.700 1.000 1 2016 2016
dbSNP: rs10428206
rs10428206
CNTN3
1 3 74485377 intron variant T/C snv 1.5E-02 0.700 1.000 1 2016 2016
dbSNP: rs10455872
rs10455872
LPA
33 0.662 0.320 6 160589086 intron variant A/G snv 4.3E-02 0.010 1.000 1 2014 2014
dbSNP: rs10467515
rs10467515 		1 13 52927172 regulatory region variant A/G snv 1.2E-02 0.700 1.000 1 2016 2016
dbSNP: rs10484876
rs10484876
PAQR8 ; EFHC1
1 6 52389351 intron variant C/T snv 0.14 0.700 1.000 1 2016 2016
dbSNP: rs10757269
rs10757269
CDKN2B-AS1
4 1.000 0.040 9 22072265 intron variant A/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs10757278
rs10757278
CDKN2B-AS1
44 0.620 0.520 9 22124478 intron variant A/G snv 0.40 0.010 1.000 1 2013 2013
dbSNP: rs10851907
rs10851907
CHRNB4
4 1.000 0.040 15 78623522 upstream gene variant G/A snv 0.40 0.700 1.000 1 2019 2019
dbSNP: rs10979314
rs10979314
LOC105376214
1 9 108310149 intergenic variant G/A snv 7.2E-02 0.700 1.000 1 2016 2016
dbSNP: rs11039100
rs11039100
TRIM5 ; OR52N2
2 11 5805773 intron variant T/C snv 0.11 0.700 1.000 1 2016 2016
dbSNP: rs11066301
rs11066301
PTPN11
12 0.827 0.200 12 112433568 intron variant A/G snv 0.30 0.700 1.000 1 2019 2019
dbSNP: rs11077983
rs11077983
SLC16A3
1 17 82227312 upstream gene variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs11190074
rs11190074
CNNM1
1 10 99361961 intron variant A/G snv 8.7E-02 0.700 1.000 1 2016 2016
dbSNP: rs11206019
rs11206019
ZYG11B
1 1 52794278 intron variant G/T snv 0.16 0.700 1.000 1 2016 2016
dbSNP: rs11220138
rs11220138
FEZ1 ; STT3A-AS1
1 11 125585927 intron variant C/T snv 7.7E-02 0.700 1.000 1 2016 2016
dbSNP: rs1122608
rs1122608
SMARCA4
16 0.763 0.120 19 11052925 intron variant G/T snv 0.18 0.010 1.000 1 2012 2012
dbSNP: rs11466653
rs11466653
TLR10
3 1.000 0.080 4 38774614 missense variant A/G snv 6.4E-02 4.1E-02 0.700 1.000 1 2016 2016