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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 1.000 3 2011 2016
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2015 2015
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2016 2016
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2016 2016
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2016 2016
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2016 2016
dbSNP: rs2010963
rs2010963
VEGFA
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.010 1.000 1 2018 2018
dbSNP: rs1799750
rs1799750
MMP1 ; WTAPP1
48 0.592 0.760 11 102799765 intron variant C/- delins 0.50 0.010 1.000 1 2009 2009
dbSNP: rs104893877
rs104893877
SNCA
59 0.614 0.360 4 89828149 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs3025058
rs3025058
MMP3
26 0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04 0.010 1.000 1 2009 2009
dbSNP: rs2071559
rs2071559
KDR
26 0.667 0.680 4 55126199 upstream gene variant A/G snv 0.53 0.010 1.000 1 2018 2018
dbSNP: rs1042579
rs1042579
THBD
16 0.732 0.240 20 23048087 missense variant G/A;T snv 0.19 0.010 1.000 1 2001 2001
dbSNP: rs147377392
rs147377392
THBD
11 0.763 0.120 20 23048144 missense variant A/G snv 1.0E-04 2.8E-04 0.010 1.000 1 2001 2001
dbSNP: rs11135046
rs11135046
EBF1
2 0.925 0.120 5 158803005 intron variant G/A;T snv 0.700 1.000 2 2018 2019
dbSNP: rs12625547
rs12625547
NFATC2
2 0.925 0.080 20 51538108 intron variant T/G snv 0.18 0.700 1.000 2 2018 2019
dbSNP: rs11121615
rs11121615
CASZ1
2 1.000 0.040 1 10765520 intron variant C/T snv 0.49 0.710 1.000 3 2018 2019
dbSNP: rs192647746
rs192647746
TENM3
1 1.000 0.040 4 181839213 upstream gene variant A/G;T snv 0.700 1.000 2 2018 2019
dbSNP: rs2241173
rs2241173
LINC01152 ; ROCR
1 1.000 0.040 17 72032304 intron variant A/G snv 0.57 0.700 1.000 2 2018 2019
dbSNP: rs28558138
rs28558138
TBC1D19
1 1.000 0.040 4 26816458 intergenic variant G/C snv 0.40 0.700 1.000 2 2018 2019
dbSNP: rs2861819
rs2861819
LOC107985892
1 1.000 0.040 2 68262089 upstream gene variant G/C snv 0.61 0.700 1.000 2 2018 2019
dbSNP: rs2911463
rs2911463
PIEZO1
1 1.000 0.040 16 88769137 intron variant G/A;C snv 0.700 1.000 2 2018 2019
dbSNP: rs3101725
rs3101725
SLC12A2
1 1.000 0.040 5 128188326 3 prime UTR variant T/C snv 0.83 0.700 1.000 2 2018 2019
dbSNP: rs73107980
rs73107980
HDAC7
1 1.000 0.040 12 47793818 intron variant C/G;T snv 0.700 1.000 2 2018 2019
dbSNP: rs7773004
rs7773004 		4 1.000 0.040 6 26267527 downstream gene variant A/C;G;T snv 0.700 1.000 2 2018 2019
dbSNP: rs1035550
rs1035550
FOXC2 ; FOXC2-AS1
1 1.000 0.040 16 86569101 3 prime UTR variant A/C;G;T snv 0.010 1.000 1 2016 2016