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: rs155259
rs155259 		2 6 142525428 downstream gene variant G/A snv 0.39 0.700 1.000 1 2010 2010
dbSNP: rs16909856
rs16909856 		2 9 95442211 downstream gene variant G/A;C;T snv 0.700 1.000 1 2010 2010
dbSNP: rs16909859
rs16909859
PTCH1
2 9 95442510 downstream gene variant G/A snv 0.14 0.700 1.000 1 2010 2010
dbSNP: rs2114719
rs2114719 		2 15 70640999 downstream gene variant A/G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs2162555
rs2162555 		2 15 70641233 downstream gene variant T/C snv 0.85 0.700 1.000 1 2014 2014
dbSNP: rs262119
rs262119 		2 6 142521656 downstream gene variant T/C snv 0.45 0.700 1.000 1 2010 2010
dbSNP: rs3748069
rs3748069
ADGRG6
4 6 142446496 downstream gene variant A/G snv 0.39 0.700 1.000 1 2010 2010
dbSNP: rs643975
rs643975 		2 6 142523114 downstream gene variant C/G snv 0.20 0.700 1.000 1 2010 2010
dbSNP: rs6494886
rs6494886 		2 15 70641392 downstream gene variant A/C;T snv 0.700 1.000 1 2014 2014
dbSNP: rs6906468
rs6906468 		2 6 142448249 downstream gene variant T/C snv 0.21 0.700 1.000 1 2010 2010
dbSNP: rs153916
rs153916
SPATA9
4 1.000 0.040 5 95700996 upstream gene variant C/A;G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs2162556
rs2162556
LOC107984791
2 15 70644099 TF binding site variant T/C snv 0.85 0.700 1.000 1 2014 2014
dbSNP: rs4747972
rs4747972 		2 10 12263649 TF binding site variant G/C snv 0.45 0.700 1.000 1 2010 2010
dbSNP: rs2282043
rs2282043
PTCH1
2 9 95450326 3 prime UTR variant C/T snv 6.5E-02 0.700 1.000 1 2010 2010
dbSNP: rs2294775
rs2294775
ADGRG6
2 6 142445210 3 prime UTR variant C/G snv 0.21 0.700 1.000 1 2010 2010
dbSNP: rs6830970
rs6830970
FAM13A
5 1.000 0.040 4 88855930 3 prime UTR variant A/G snv 0.38 0.700 1.000 1 2010 2010
dbSNP: rs17036076
rs17036076
ARHGEF38
2 4 105654112 synonymous variant A/G snv 4.7E-02 5.0E-02 0.700 1.000 1 2010 2010
dbSNP: rs2637261
rs2637261 		2 10 76560835 non coding transcript exon variant C/T snv 0.54 0.700 1.000 1 2014 2014
dbSNP: rs2070600
rs2070600
AGER
82 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 0.700 1.000 2 2010 2010
dbSNP: rs11155242
rs11155242
ADGRG6
2 6 142370412 missense variant A/C snv 0.19 0.20 0.700 1.000 1 2010 2010
dbSNP: rs1422795
rs1422795
ADAM19
2 5 157509356 missense variant T/C;G snv 0.38; 8.0E-06 0.700 1.000 1 2010 2010
dbSNP: rs2571445
rs2571445
TNS1
10 0.925 0.080 2 217818431 missense variant A/G;T snv 0.62 0.700 1.000 1 2010 2010
dbSNP: rs12477314
rs12477314 		4 2 238955452 regulatory region variant C/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs2036527
rs2036527 		12 0.851 0.080 15 78559273 regulatory region variant G/A snv 0.29 0.700 1.000 1 2011 2011
dbSNP: rs262121
rs262121 		2 6 142518361 regulatory region variant T/C;G snv 0.700 1.000 1 2010 2010