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: rs7312774
rs7312774
1 1.000 0.080 12 106911950 downstream gene variant G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs11894344
rs11894344
1 1.000 0.080 2 70792111 upstream gene variant C/T snv 3.4E-02 0.700 1.000 1 2015 2015
dbSNP: rs13400297
rs13400297
1 1.000 0.080 2 227557073 3 prime UTR variant G/A snv 4.7E-02 0.700 1.000 1 2015 2015
dbSNP: rs41284366
rs41284366
1 1.000 0.080 10 116427932 5 prime UTR variant C/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs4148247
rs4148247
1 1.000 0.080 6 30571428 5 prime UTR variant C/T snv 2.9E-02 0.700 1.000 1 2015 2015
dbSNP: rs1137256
rs1137256
1 1.000 0.080 22 42572508 synonymous variant G/A snv 2.5E-04 2.0E-04 0.700 1.000 1 2015 2015
dbSNP: rs41300938
rs41300938
1 1.000 0.080 X 143629396 synonymous variant C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs41433250
rs41433250
1 1.000 0.080 13 30921698 synonymous variant C/G;T snv 4.0E-06; 1.2E-02 0.700 1.000 1 2015 2015
dbSNP: rs12143151
rs12143151
1 1.000 0.080 1 82478098 non coding transcript exon variant G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs11101682
rs11101682
1 1.000 0.080 10 133297990 missense variant A/G snv 0.700 1.000 1 2015 2015
dbSNP: rs11216131
rs11216131
1 1.000 0.080 11 116762864 missense variant C/A snv 1.1E-03 1.3E-03 0.700 1.000 1 2015 2015
dbSNP: rs11551002
rs11551002
1 1.000 0.080 19 35871260 missense variant C/A snv 0.700 1.000 1 2015 2015
dbSNP: rs16990169
rs16990169
DMD
1 1.000 0.080 X 32217032 missense variant G/A snv 2.9E-03 9.7E-03 0.700 1.000 1 2015 2015
dbSNP: rs34626661
rs34626661
1 1.000 0.080 2 222924591 missense variant G/A snv 2.3E-04 1.2E-03 0.700 1.000 1 2015 2015
dbSNP: rs41529445
rs41529445
1 1.000 0.080 20 46011266 missense variant C/T snv 9.7E-04 1.5E-03 0.700 1.000 1 2015 2015
dbSNP: rs11833289
rs11833289
1 1.000 0.080 12 55057910 regulatory region variant T/C snv 3.3E-02 0.700 1.000 1 2015 2015
dbSNP: rs28377390
rs28377390
1 1.000 0.080 15 97197508 regulatory region variant G/A snv 5.6E-02 0.700 1.000 1 2015 2015
dbSNP: rs10034950
rs10034950
1 1.000 0.080 4 34908853 intergenic variant G/A snv 2.9E-02 0.700 1.000 1 2015 2015
dbSNP: rs10788289
rs10788289
1 1.000 0.080 10 83884859 intergenic variant A/G snv 0.96 0.700 1.000 1 2015 2015
dbSNP: rs12100649
rs12100649
1 1.000 0.080 14 45537037 intergenic variant G/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs1632862
rs1632862
1 1.000 0.080 6 31001226 intergenic variant C/A;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs16990641
rs16990641
1 1.000 0.080 4 35007586 intergenic variant C/T snv 1.5E-02 0.700 1.000 1 2015 2015
dbSNP: rs17021683
rs17021683
1 1.000 0.080 2 82389326 intergenic variant G/T snv 2.7E-02 0.700 1.000 1 2015 2015
dbSNP: rs17432979
rs17432979
1 1.000 0.080 10 9022639 intergenic variant A/G snv 2.2E-02 0.700 1.000 1 2015 2015
dbSNP: rs1845529
rs1845529
1 1.000 0.080 8 115151634 intergenic variant G/A;T snv 0.700 1.000 1 2015 2015