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: rs1713222
rs1713222 		3 2 21048451 upstream gene variant A/G snv 0.82 0.700 1.000 1 2008 2008
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: rs4560142
rs4560142 		2 2 21160845 intergenic variant C/T snv 0.75 0.700 1.000 1 2008 2008
dbSNP: rs4591370
rs4591370 		3 2 21160870 intergenic variant A/G snv 0.75 0.700 1.000 1 2008 2008
dbSNP: rs4605275
rs4605275 		3 1.000 0.080 19 44835236 intergenic variant T/C snv 0.69 0.700 1.000 1 2008 2008
dbSNP: rs478442
rs478442 		18 0.851 0.120 2 21176344 intergenic variant G/C;T snv 0.700 1.000 1 2008 2008
dbSNP: rs488507
rs488507 		2 2 21170817 intergenic variant G/T snv 0.78 0.700 1.000 1 2008 2008
dbSNP: rs506585
rs506585 		4 2 21174310 intergenic variant G/A;C;T snv 0.700 1.000 1 2008 2008
dbSNP: rs538928
rs538928 		2 2 21166147 intergenic variant A/G;T snv 0.700 1.000 1 2008 2008
dbSNP: rs576203
rs576203 		2 2 21170751 intergenic variant A/G snv 0.76 0.700 1.000 1 2008 2008
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: rs12272004
rs12272004 		5 1.000 0.040 11 116733008 TF binding site variant C/A snv 9.8E-02 0.700 1.000 1 2009 2009
dbSNP: rs2159324
rs2159324
MARK4 ; BLOC1S3
2 19 45192480 intron variant T/C snv 0.36 0.700 1.000 1 2009 2009
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: rs4767631
rs4767631
KSR2
2 12 117873938 intron variant G/A;C snv 0.700 1.000 1 2009 2009
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: 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: 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: rs127430
rs127430
APCDD1L-DT
6 20 58589799 intron variant A/G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs2142672
rs2142672 		2 6 16196963 intergenic variant G/A snv 0.42 0.800 1.000 1 2010 2010
dbSNP: rs4971516
rs4971516
LDAH
3 2 20703255 intron variant T/C snv 6.7E-02 0.800 1.000 1 2010 2010
dbSNP: rs7890572
rs7890572
IL1RAPL1
6 X 29622701 intron variant A/G snv 9.3E-02 0.700 1.000 1 2010 2010
dbSNP: rs11669133
rs11669133
SMARCA4
2 1.000 0.040 19 10981463 intron variant G/A snv 4.2E-02 0.700 1.000 1 2011 2011
dbSNP: rs11671653
rs11671653
DNM2
2 1.000 0.040 19 10727810 intron variant G/A;T snv 0.700 1.000 1 2011 2011