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: rs2142672
rs2142672 		2 6 16196963 intergenic variant G/A snv 0.42 0.800 1.000 1 2010 2010
dbSNP: rs2254287
rs2254287
COL11A2
3 1.000 0.040 6 33176171 intron variant C/A;G;T snv 0.800 1.000 1 2008 2008
dbSNP: rs2650000
rs2650000
HNF1A-AS1
10 0.851 0.200 12 120951159 intron variant A/C snv 0.70 0.800 1.000 1 2009 2009
dbSNP: rs4253772
rs4253772
PPARA
3 22 46231706 intron variant C/T snv 7.8E-02 0.800 1.000 1 2013 2013
dbSNP: rs4844614
rs4844614
CR1L
3 1.000 0.040 1 207701830 intron variant G/C;T snv 0.800 1.000 1 2009 2009
dbSNP: rs4971516
rs4971516
LDAH
3 2 20703255 intron variant T/C snv 6.7E-02 0.800 1.000 1 2010 2010
dbSNP: rs5031002
rs5031002
AR
3 1.000 0.040 X 67722783 intron variant G/A snv 1.5E-02 1.5E-02 0.800 1.000 1 2009 2009
dbSNP: rs6102059
rs6102059
LOC102724968
3 1.000 0.040 20 40600144 intergenic variant C/T snv 0.33 0.800 1.000 1 2009 2009
dbSNP: rs6589566
rs6589566
ZPR1
10 0.882 0.080 11 116781707 intron variant G/A;C;T snv 0.800 1.000 1 2008 2008
dbSNP: rs6756629
rs6756629
ABCG5 ; ABCG8
5 0.925 0.080 2 43837951 missense variant G/A;T snv 6.7E-02 0.800 1.000 1 2009 2009
dbSNP: rs6831256
rs6831256
DOK7
4 4 3471412 intron variant A/G snv 0.49 0.800 1.000 1 2013 2013
dbSNP: rs7640978
rs7640978
CMTM6
3 3 32491518 intron variant C/T snv 0.14 0.800 1.000 1 2013 2013
dbSNP: rs10045497
rs10045497
HMGCR
2 5 75340659 intron variant C/A snv 0.35 0.700 1.000 1 2013 2013
dbSNP: rs10054063
rs10054063 		4 5 173965395 downstream gene variant A/T snv 0.26 0.700 1.000 1 2018 2018
dbSNP: rs10066168
rs10066168
HAVCR1
2 5 157057207 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1006725
rs1006725
TCF7L2
2 10 112970444 intron variant A/G snv 4.2E-03 0.700 1.000 1 2012 2012
dbSNP: rs10087178
rs10087178
MSRA
2 8 10111284 intron variant T/C snv 6.6E-02 0.700 1.000 1 2012 2012
dbSNP: rs10104003
rs10104003
RP1
1 8 54509880 intron variant C/T snv 0.19 0.700 1.000 1 2019 2019
dbSNP: rs10107815
rs10107815
MSRA
4 8 10156645 intron variant G/C snv 5.1E-02 0.700 1.000 1 2012 2012
dbSNP: rs10128711
rs10128711
SPTY2D1
2 11 18611437 intron variant T/C snv 0.64 0.55 0.700 1.000 1 2018 2018
dbSNP: rs1014283
rs1014283
ABCB4
2 7 87447271 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs10156121
rs10156121 		4 7 142672656 downstream gene variant T/C snv 3.9E-02 0.700 1.000 1 2012 2012
dbSNP: rs1016988
rs1016988 		4 5 132408882 upstream gene variant T/C snv 0.20 0.700 1.000 1 2017 2017
dbSNP: rs10172650
rs10172650 		2 2 20982585 intergenic variant G/A snv 0.28 0.700 1.000 1 2017 2017
dbSNP: rs10185855
rs10185855
TBC1D8
4 2 101025798 intron variant A/G snv 0.35 0.700 1.000 1 2018 2018