Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1008438 0.807 0.120 6 31815431 upstream gene variant A/C;T snv 1
rs1008642 0.882 0.120 3 8733975 missense variant C/A;G;T snv 0.29 1
rs1008745697 1.000 0.080 19 12649341 splice region variant C/T snv 4.0E-06 1
rs1008834111 1.000 0.120 19 12896320 stop gained C/T snv 1
rs1008906426 1.000 0.120 11 17394412 intron variant C/G;T snv 4.0E-06; 4.0E-06; 2.0E-05 1
rs10090787 1.000 0.080 8 120798309 intron variant C/T snv 0.34 2
rs1009131948 1.000 0.120 2 178527548 stop gained G/A snv 8.0E-06 1.4E-05 1
rs1009298200 0.742 0.400 16 5079077 missense variant C/G;T snv 7.0E-06 34
rs1009762900 1.000 0.080 19 35831763 splice acceptor variant C/A;T snv 1
rs1009872980 1.000 0.120 14 87992969 splice donor variant C/A;G;T snv 1
rs1010184002 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 60
rs1010666282
DMD
1.000 0.120 X 32411754 stop gained G/A;T snv 1
rs1010907740 1.000 8 144084471 missense variant T/C snv 1
rs1010930015 1.000 0.040 12 64460250 missense variant A/C snv 4.2E-06 1
rs1011196447 0.925 0.080 2 69354314 splice acceptor variant T/C snv 2.1E-05 2
rs1011303295 1.000 0.120 2 218892843 missense variant T/A;C snv 7.0E-06 1
rs1011425121
NEB ; RIF1
1.000 0.080 2 151508004 splice donor variant C/A;G snv 1
rs1012275384 0.925 0.080 17 75522019 frameshift variant C/- delins 1.4E-05 7.0E-06 2
rs1013079991 1.000 0.120 11 62692475 splice acceptor variant T/C snv 1
rs1013147010 1.000 0.080 19 11105492 missense variant C/A snv 1
rs1013320485 1.000 0.120 1 42755219 splice acceptor variant T/A;C snv 1
rs1013345784 1.000 0.120 17 42536274 start lost T/C;G snv 1
rs1013801316 1.000 0.160 11 89191418 stop gained G/A;T snv 1.2E-05 1
rs1014317450 1.000 17 78997112 missense variant T/A snv 1.2E-05 1
rs1014835928 1.000 0.120 11 66526786 stop gained C/T snv 8.0E-06 1