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: rs2070744
rs2070744
NOS3
54 0.608 0.680 7 150992991 intron variant C/T snv 0.70 0.020 1.000 2 2012 2017
dbSNP: rs2149356
rs2149356
TLR4
14 0.742 0.360 9 117711921 intron variant T/G snv 0.54 0.020 1.000 2 2008 2019
dbSNP: rs10120688
rs10120688
CDKN2B-AS1
7 0.807 0.080 9 22056500 intron variant G/A snv 0.50 0.010 1.000 1 2012 2012
dbSNP: rs10451941
rs10451941
OPA1
3 0.882 0.160 3 193637313 intron variant T/A;C snv 0.42 0.010 1.000 1 2012 2012
dbSNP: rs12025126
rs12025126
RERE
2 0.925 0.040 1 8699495 intron variant T/C snv 0.26 0.010 < 0.001 1 2012 2012
dbSNP: rs1256031
rs1256031
ESR2
9 0.790 0.200 14 64279461 intron variant G/A;T snv 0.57 0.010 1.000 1 2010 2010
dbSNP: rs1333037
rs1333037
CDKN2B-AS1
3 0.925 0.040 9 22040766 intron variant C/T snv 0.71 0.700 1.000 1 2016 2016
dbSNP: rs1900004
rs1900004
LINC02640
5 0.827 0.040 10 68241124 intron variant C/T snv 0.39 0.010 1.000 1 2012 2012
dbSNP: rs1926320
rs1926320
DCLK1
2 0.925 0.040 13 36078480 intron variant T/C snv 0.27 0.010 < 0.001 1 2012 2012
dbSNP: rs2033008
rs2033008
NCK2
1 1.000 0.040 2 105886129 intron variant T/A snv 0.30 0.010 < 0.001 1 2013 2013
dbSNP: rs2041895
rs2041895
TMEM263
1 1.000 0.040 12 106956310 intron variant C/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs2165241
rs2165241
LOXL1 ; LOXL1-AS1
15 0.716 0.360 15 73929861 intron variant T/C snv 0.60 0.010 1.000 1 2008 2008
dbSNP: rs284491
rs284491
ZFPM2
2 0.925 0.040 8 104946405 intron variant C/T snv 0.45 0.700 1.000 1 2016 2016
dbSNP: rs3213787
rs3213787
SRBD1
2 0.925 0.040 2 45419685 intron variant A/G snv 4.3E-02 0.010 1.000 1 2011 2011
dbSNP: rs59758982
rs59758982
TP53
2 0.925 0.040 17 7676326 intron variant TCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCC/-;TCCAGGTCCCCAGCCC;TCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCC delins 0.82 0.010 1.000 1 2009 2009
dbSNP: rs678350
rs678350
HK2
1 1.000 0.040 2 74835743 intron variant G/A snv 0.77 0.010 1.000 1 2019 2019
dbSNP: rs690037
rs690037
RFTN1 ; OXNAD1
3 0.882 0.040 3 16354161 intron variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs7049105
rs7049105
CDKN2B-AS1
7 0.807 0.120 9 22028802 intron variant A/G snv 0.58 0.010 1.000 1 2012 2012
dbSNP: rs7795356
rs7795356
COMETT
1 1.000 0.040 7 116576975 intron variant T/A;C snv 0.010 < 0.001 1 2013 2013
dbSNP: rs7854658
rs7854658
LMX1B
3 0.882 0.040 9 126652659 intron variant G/A snv 0.26 0.010 1.000 1 2009 2009
dbSNP: rs7859156
rs7859156
LMX1B
4 0.851 0.040 9 126637749 intron variant T/C snv 0.74 0.010 1.000 1 2009 2009
dbSNP: rs7961953
rs7961953
TMTC2
2 0.925 0.040 12 82698057 intron variant G/A snv 0.15 0.010 1.000 1 2017 2017
dbSNP: rs547984
rs547984 		3 0.882 0.040 1 237933586 intergenic variant A/C snv 0.60 0.010 1.000 1 2017 2017
dbSNP: rs3858145
rs3858145 		3 0.882 0.040 10 68252081 regulatory region variant A/G snv 0.33 0.010 1.000 1 2012 2012
dbSNP: rs735860
rs735860
GCM1
3 0.882 0.040 6 53258320 regulatory region variant T/C snv 0.66 0.010 1.000 1 2010 2010