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: rs322
rs322
LPL
1 8 19961706 intron variant A/C snv 0.31 0.700 1.000 1 2019 2019
dbSNP: rs7046999
rs7046999
LOC105376214
1 9 108103777 regulatory region variant A/C snv 2.8E-02 0.700 1.000 1 2016 2016
dbSNP: rs7476
rs7476
CREB3L1
1 11 46321284 3 prime UTR variant A/C snv 0.46 0.700 1.000 1 2019 2019
dbSNP: rs9747201
rs9747201
SLC16A3
1 17 82219976 downstream gene variant A/C snv 0.76 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: rs12520838
rs12520838
COMMD10
1 5 116161170 intron variant A/C;G snv 0.10 0.010 1.000 1 2019 2019
dbSNP: rs6570628
rs6570628
UTRN
1 6 144428223 intron variant A/C;G;T snv 0.700 1.000 1 2016 2016
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: 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: 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: 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: rs11190074
rs11190074
CNNM1
1 10 99361961 intron variant A/G snv 8.7E-02 0.700 1.000 1 2016 2016
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
dbSNP: rs1194897557
rs1194897557
MTHFR
7 0.827 0.240 1 11796276 missense variant A/G snv 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1539189
rs1539189
PDYN-AS1
1 20 1966633 intron variant A/G snv 2.0E-02 0.700 1.000 1 2016 2016
dbSNP: rs16855732
rs16855732
TNIK
1 3 171063141 3 prime UTR variant A/G snv 2.4E-02 0.700 1.000 1 2016 2016
dbSNP: rs16890431
rs16890431 		1 4 14429763 intron variant A/G snv 4.5E-02 0.700 1.000 1 2016 2016
dbSNP: rs2383206
rs2383206
CDKN2B-AS1
17 0.742 0.320 9 22115027 intron variant A/G snv 0.49 0.010 1.000 1 2009 2009
dbSNP: rs2735940
rs2735940
TERT
25 0.689 0.400 5 1296371 upstream gene variant A/G snv 0.49 0.010 1.000 1 2012 2012
dbSNP: rs2853669
rs2853669
TERT
35 0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25 0.010 1.000 1 2012 2012
dbSNP: rs317789
rs317789
SYTL3
1 6 158680261 intron variant A/G snv 0.43 0.700 1.000 1 2019 2019
dbSNP: rs3825807
rs3825807
ADAMTS7
10 0.807 0.120 15 78796769 missense variant A/G snv 0.34 0.33 0.010 1.000 1 2018 2018
dbSNP: rs5742905
rs5742905
CBS
22 0.701 0.360 21 43063074 missense variant A/G snv 0.010 1.000 1 2011 2011