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: rs9138
rs9138
SPP1
12 0.776 0.360 4 87983190 3 prime UTR variant A/C;T snv 0.010 1.000 1 2014 2014
dbSNP: rs3869062
rs3869062
HLA-A
1 1.000 0.120 6 29967114 downstream gene variant A/G snv 5.5E-02 0.720 1.000 5 2009 2017
dbSNP: rs9510787
rs9510787
TNFRSF19
2 1.000 0.120 13 23631056 intron variant A/G snv 0.20 0.730 1.000 4 2010 2018
dbSNP: rs1412829
rs1412829
CDKN2B-AS1
14 0.742 0.400 9 22043927 intron variant A/G snv 0.28 0.720 1.000 3 2010 2017
dbSNP: rs3129055
rs3129055 		2 1.000 0.120 6 29702484 regulatory region variant A/G snv 0.24 0.720 1.000 3 2009 2017
dbSNP: rs28421666
rs28421666 		2 1.000 0.120 6 32624960 upstream gene variant A/G snv 6.9E-02 0.710 1.000 2 2010 2017
dbSNP: rs80358259
rs80358259
NPC1
9 0.851 0.320 18 23536736 missense variant A/G snv 2.0E-04 2.4E-04 0.020 1.000 2 2003 2011
dbSNP: rs1024611
rs1024611 		63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs10505477
rs10505477
POU5F1B ; CASC8 ; PCAT1
31 0.658 0.400 8 127395198 intron variant A/G snv 0.40 0.700 1.000 1 2010 2010
dbSNP: rs10896449
rs10896449 		7 0.827 0.200 11 69227200 intergenic variant A/G snv 0.53 0.700 1.000 1 2010 2010
dbSNP: rs10993994
rs10993994
MSMB
15 0.763 0.280 10 46046326 5 prime UTR variant A/G snv 0.54 0.700 1.000 1 2010 2010
dbSNP: rs11155133
rs11155133
LOC102723724
2 0.925 0.200 6 140848688 intron variant A/G snv 8.5E-02 0.700 1.000 1 2010 2010
dbSNP: rs11978267
rs11978267
IKZF1
9 0.763 0.240 7 50398606 intron variant A/G snv 0.25 0.700 1.000 1 2010 2010
dbSNP: rs12621278
rs12621278
ITGA6
7 0.790 0.280 2 172446825 intron variant A/G snv 4.9E-02 0.700 1.000 1 2010 2010
dbSNP: rs132770
rs132770
XRCC6 ; DESI1
14 0.752 0.320 22 41621260 5 prime UTR variant A/G snv 0.83 0.010 1.000 1 2015 2015
dbSNP: rs13281615
rs13281615
POU5F1B ; CASC8 ; PCAT1 ; CASC21
18 0.716 0.360 8 127343372 intron variant A/G snv 0.43 0.700 1.000 1 2010 2010
dbSNP: rs13387042
rs13387042
LOC101928278 ; LOC105373874
16 0.732 0.280 2 217041109 intergenic variant A/G snv 0.44 0.700 1.000 1 2010 2010
dbSNP: rs16902094
rs16902094
CASC8 ; PCAT1 ; CASC21
3 0.882 0.160 8 127308101 intron variant A/G snv 0.15 0.700 1.000 1 2010 2010
dbSNP: rs17046583
rs17046583
RTN4
1 1.000 0.120 2 55001811 intron variant A/G snv 6.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs17483466
rs17483466
ACOXL ; MIR4435-2HG
5 0.827 0.280 2 111039881 intron variant A/G snv 0.15 0.700 1.000 1 2010 2010
dbSNP: rs17576
rs17576
MMP9
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 0.010 1.000 1 2013 2013
dbSNP: rs1800871
rs1800871
IL10 ; IL19
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.010 1.000 1 2016 2016
dbSNP: rs1978503
rs1978503
LINC01416 ; LOC107985164
3 0.882 0.160 18 55997051 non coding transcript exon variant A/G snv 0.18 0.700 1.000 1 2010 2010
dbSNP: rs2071559
rs2071559
KDR
26 0.667 0.680 4 55126199 upstream gene variant A/G snv 0.53 0.010 1.000 1 2017 2017
dbSNP: rs210138
rs210138
BAK1 ; GGNBP1
5 0.851 0.240 6 33574761 intron variant A/G snv 0.19 0.700 1.000 1 2010 2010