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: rs1057518834
rs1057518834
DMD
9 X 32849737 frameshift variant C/- delins 0.700 0
dbSNP: rs1158061584
rs1158061584
1 13 32443086 frameshift variant T/-;TT delins 0.700 0
dbSNP: rs1230432769
rs1230432769
1 X 48962751 missense variant G/A snv 2.9E-05 0.700 0
dbSNP: rs1259852690
rs1259852690
1 16 30669598 missense variant C/G snv 4.2E-06 2.8E-05 0.700 0
dbSNP: rs1297383239
rs1297383239
1 19 1091909 splice acceptor variant T/C snv 4.0E-06 0.700 0
dbSNP: rs1333906033
rs1333906033
1 22 49883834 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs1363884891
rs1363884891
1 18 12673471 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs141844660
rs141844660
1 6 99443648 stop gained C/A snv 1.3E-04 1.2E-04 0.700 0
dbSNP: rs1430282035
rs1430282035
1 20 34996388 missense variant G/A snv 8.3E-06 0.700 0
dbSNP: rs143130309
rs143130309
1 12 110163027 missense variant C/A;T snv 2.0E-05 0.700 0
dbSNP: rs1441510334
rs1441510334
1 5 171436234 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs144709443
rs144709443
1 1 19155051 missense variant C/T snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs1456887132
rs1456887132
1 20 35869519 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs1469540056
rs1469540056
1 22 20982433 missense variant G/C;T snv 5.1E-06 0.700 0
dbSNP: rs1480591236
rs1480591236
1 1 228276699 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs148723879
rs148723879
1 10 69246212 missense variant C/T snv 9.9E-05 1.2E-04 0.700 0
dbSNP: rs150300426
rs150300426
1 3 49014077 missense variant G/A snv 3.6E-05 1.4E-05 0.700 0
dbSNP: rs1557106484
rs1557106484
7 X 77633315 missense variant C/A snv 0.700 0
dbSNP: rs1557523211
rs1557523211
1 1 55073913 splice region variant G/A snv 0.700 0
dbSNP: rs1557810606
rs1557810606
1 1 24814131 missense variant C/T snv 0.700 0
dbSNP: rs1557853919
rs1557853919
1 1 153939040 missense variant G/A snv 0.700 0
dbSNP: rs1558053119
rs1558053119
1 1 184717581 missense variant A/C snv 0.700 0
dbSNP: rs1558553140
rs1558553140
1 2 42659795 missense variant G/A snv 0.700 0
dbSNP: rs1560739587
rs1560739587
1 4 140396131 missense variant T/C snv 0.700 0
dbSNP: rs1560743601
rs1560743601
1 4 140405975 missense variant G/T snv 0.700 0