Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs7570532
C2orf88 ; MSTN
2 190058686 intron variant A/G snv 0.34 1
rs1213308971
DMD
X 31348599 missense variant T/A snv 5.5E-06 1
rs1427938321
DMD
X 32365095 missense variant T/A snv 5.5E-06 1
rs876657777
DMD
X 32644215 missense variant T/A snv 1
rs17790156
LRP4
11 46883767 intron variant A/T snv 8.9E-02 1
rs898604
LRP4
11 46896432 intron variant G/A snv 0.76 1
rs366512
P4HA2 ; PDLIM4
5 132258479 intron variant C/T snv 1.8E-02 1
rs3900945
P4HA2 ; PDLIM4
5 132257177 intron variant T/A;C snv 1
rs270611
PDLIM4 ; P4HA2
5 132256377 intron variant C/A;T snv 1
rs12475342
SPTBN1
2 54655541 intron variant G/A snv 0.28 1
rs2941584
SPTBN1
2 54654484 intron variant T/C snv 0.64 1
rs281865264
BEST1 ; LOC107984334
1.000 0.080 11 61959539 missense variant T/A;C snv 4.0E-06 2
rs758488397
COL1A2
1.000 0.080 7 94412666 missense variant G/A;C snv 2
rs6469804
COLEC10
8 119032590 intron variant G/A;C snv 2
rs1643821
ESR1
6 151862416 intron variant G/A snv 0.46 2
rs784288
MECOM
1.000 0.080 3 169253443 intron variant A/G;T snv 2
rs4342521
SEM1 ; LOC105375411
7 96506693 missense variant T/G snv 0.72 2
rs11898505
SPTBN1
2 54457420 intron variant A/G snv 0.76 2
rs3917
COL1A2
0.925 0.160 7 94431047 3 prime UTR variant -/GCTGTCC;GTTG;GTTGTCC;GTTGTGC ins 3
rs3102734
COLEC10 ; TNFRSF11B
0.925 0.080 8 118951777 intron variant G/A snv 7.3E-02 9.5E-02 3
rs1107748
LINC02594
1.000 0.080 17 43696446 intron variant T/C snv 0.54 3
rs10085588
LOC105375412 ; SEM1 ; LOC105375411
1.000 0.080 7 96508362 intron variant A/G snv 0.72 3
rs13182402
ALDH7A1
0.925 0.160 5 126582456 intron variant A/G snv 0.15 4
rs6831280
IDUA
0.925 0.080 4 1002377 missense variant G/A;C snv 0.17 4
rs587777005
LGR4
0.925 0.120 11 27391119 stop gained G/A snv 1.4E-05 4