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: rs10163187
rs10163187
ADAMTS7P4
1 15 85327287 intron variant C/T snv 0.29 0.700 1.000 1 2013 2013
dbSNP: rs10189064
rs10189064
USP37
1 2 218462777 intron variant G/A snv 2.1E-02 0.700 1.000 1 2013 2013
dbSNP: rs10434530
rs10434530
LOC107986419
1 5 65080521 intergenic variant T/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs10453441
rs10453441
WNT7B
3 1.000 0.040 22 45967859 intron variant A/G snv 0.40 0.700 1.000 1 2015 2015
dbSNP: rs10520600
rs10520600
LOC102724393
1 15 85365171 intergenic variant A/G snv 0.15 0.700 1.000 1 2013 2013
dbSNP: rs10842183
rs10842183
SOX5
1 12 23580508 intron variant G/A snv 0.78 0.700 1.000 1 2011 2011
dbSNP: rs1117707
rs1117707
LOC107986419
1 5 65093838 intergenic variant A/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs1159105
rs1159105
LOC107986419
1 5 65062063 regulatory region variant T/G snv 0.21 0.700 1.000 1 2013 2013
dbSNP: rs11616662
rs11616662 		2 13 40545329 intron variant G/A snv 0.11 0.700 1.000 1 2013 2013
dbSNP: rs11790360
rs11790360
LINC02692
2 9 136971795 non coding transcript exon variant T/C;G snv 1.5E-05; 0.49 0.700 1.000 1 2013 2013
dbSNP: rs12139042
rs12139042
MTOR
1 1 11107089 3 prime UTR variant G/A snv 5.7E-02 5.0E-02 0.700 1.000 1 2014 2014
dbSNP: rs12447690
rs12447690
LOC107984862
3 1.000 0.160 16 88264518 intron variant C/T snv 0.53 0.700 1.000 1 2013 2013
dbSNP: rs12448211
rs12448211 		2 16 88296907 intron variant G/A snv 0.56 0.700 1.000 1 2013 2013
dbSNP: rs12554098
rs12554098
COL5A1
1 9 134681763 intron variant G/A snv 0.11 0.700 1.000 1 2013 2013
dbSNP: rs12554842
rs12554842
COL5A1
1 9 134681561 intron variant C/T snv 0.11 0.700 1.000 1 2013 2013
dbSNP: rs1331660
rs1331660
PTPRD
1 9 9039222 intron variant A/G snv 0.10 0.700 1.000 1 2011 2011
dbSNP: rs1701760
rs1701760
LOC105375336
1 7 66008701 downstream gene variant A/G snv 0.50 0.700 1.000 1 2013 2013
dbSNP: rs17087267
rs17087267
LOC101928923
1 6 156264759 intron variant T/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs1727177
rs1727177
LINC01376
1 2 19292818 intron variant T/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs1771798
rs1771798
MTHFD1L
1 6 150960431 intron variant T/C;G snv 0.89 0.700 1.000 1 2011 2011
dbSNP: rs200744
rs200744
MACROD2
1 20 15613722 intron variant C/T snv 0.12 0.700 1.000 1 2011 2011
dbSNP: rs2016325
rs2016325
GTF2IP23
1 7 66858513 downstream gene variant T/C snv 0.42 0.700 1.000 1 2013 2013
dbSNP: rs2280823
rs2280823
ARHGEF10
1 8 1949491 intron variant A/G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs2307049
rs2307049
PDGFRA
1 4 54263987 3 prime UTR variant G/A snv 0.22 0.18 0.700 1.000 1 2013 2013
dbSNP: rs2323457
rs2323457 		1 17 14650873 intergenic variant C/A snv 0.44 0.700 1.000 1 2013 2013