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: rs11190140
rs11190140
NKX2-3 ; LINC01475
6 0.827 0.160 10 99531836 upstream gene variant T/C snv 0.55 0.010 1.000 1 2012 2012
dbSNP: rs4409764
rs4409764 		3 0.925 0.040 10 99524480 upstream gene variant T/A;G snv 0.800 1.000 2 2012 2017
dbSNP: rs10748781
rs10748781 		11 0.763 0.160 10 99523573 upstream gene variant C/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs9557207
rs9557207
UBAC2
2 13 99384164 intron variant A/G snv 0.17 0.700 1.000 1 2015 2015
dbSNP: rs9557195
rs9557195
GPR183 ; UBAC2
1 13 99304368 intron variant T/C snv 0.16 0.800 1.000 2 2012 2017
dbSNP: rs3742130
rs3742130
GPR18 ; UBAC2
3 0.925 0.040 13 99255087 synonymous variant G/A snv 0.16 0.16 0.700 1.000 1 2015 2015
dbSNP: rs9297145
rs9297145
KPNA7
6 0.827 0.120 7 99161494 intergenic variant C/A snv 0.67 0.800 1.000 2 2012 2017
dbSNP: rs2395022
rs2395022
KPNA7
1 7 99152756 intergenic variant A/C snv 0.93 0.700 1.000 1 2015 2015
dbSNP: rs2297322
rs2297322
SLC15A1
4 1.000 0.040 13 98723927 missense variant C/G;T snv 0.22 0.010 1.000 1 2014 2014
dbSNP: rs1363907
rs1363907
ERAP1 ; ERAP2
2 1.000 0.040 5 96917099 intron variant G/A snv 0.38 0.800 1.000 3 2012 2017
dbSNP: rs26653
rs26653
ERAP1
4 0.882 0.080 5 96803547 missense variant C/A;G;T snv 0.64; 8.0E-06; 9.1E-04 0.010 1.000 1 2016 2016
dbSNP: rs483905
rs483905
MAML2
2 1.000 0.040 11 96290263 intron variant G/A snv 0.26 0.700 1.000 1 2015 2015
dbSNP: rs62561366
rs62561366 		2 1.000 0.040 9 95555669 intergenic variant A/T snv 3.9E-02 0.700 1.000 1 2018 2018
dbSNP: rs3765534
rs3765534
ABCC4
4 0.882 0.200 13 95163161 missense variant C/T snv 2.3E-02 1.2E-02 0.010 1.000 1 2010 2010
dbSNP: rs145080284
rs145080284 		2 1.000 0.080 10 94662973 intergenic variant C/G snv 2.8E-02 0.700 1.000 1 2018 2018
dbSNP: rs11187157
rs11187157 		1 10 92742487 TF binding site variant T/C snv 0.40 0.700 1.000 1 2015 2015
dbSNP: rs7911264
rs7911264 		1 10 92677094 intergenic variant T/A;C;G snv 0.800 1.000 2 2012 2017
dbSNP: rs34856868
rs34856868
BTBD8
1 1 92088726 missense variant G/A snv 2.0E-02 2.0E-02 0.700 1.000 1 2015 2015
dbSNP: rs4743820
rs4743820
LINC00484 ; LOC100507103
2 1.000 0.040 9 91166134 non coding transcript exon variant C/T snv 0.61 0.800 1.000 2 2012 2015
dbSNP: rs7165170
rs7165170
CRTC3 ; CRTC3-AS1
2 1.000 0.040 15 90638257 non coding transcript exon variant A/C snv 0.26 0.700 1.000 1 2015 2015
dbSNP: rs7495132
rs7495132
CRTC3 ; CRTC3-AS1
10 0.790 0.080 15 90629669 intron variant C/T snv 0.12 0.800 1.000 2 2012 2017
dbSNP: rs1847472
rs1847472
BACH2
7 0.807 0.200 6 90263440 intron variant C/A snv 0.25 0.800 1.000 3 2012 2017
dbSNP: rs7015630
rs7015630 		2 1.000 0.040 8 89863690 intergenic variant T/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs12035735
rs12035735
LRRC8D
4 1 89839786 intron variant G/A snv 1.4E-03 0.700 1.000 1 2018 2018
dbSNP: rs304496
rs304496
LIPA
1 10 89387005 intron variant A/G snv 0.96 0.010 < 0.001 1 2017 2017