Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs11898505
SPTBN1
2 54457420 intron variant A/G snv 0.76 2
rs1643821
ESR1
6 151862416 intron variant G/A snv 0.46 2
rs4342521
SEM1 ; LOC105375411
7 96506693 missense variant T/G snv 0.72 2
rs6469804
COLEC10
8 119032590 intron variant G/A;C snv 2
rs1213308971
DMD
X 31348599 missense variant T/A snv 5.5E-06 1
rs12475342
SPTBN1
2 54655541 intron variant G/A snv 0.28 1
rs1427938321
DMD
X 32365095 missense variant T/A snv 5.5E-06 1
rs17790156
LRP4
11 46883767 intron variant A/T snv 8.9E-02 1
rs270611
PDLIM4 ; P4HA2
5 132256377 intron variant C/A;T snv 1
rs2941584
SPTBN1
2 54654484 intron variant T/C snv 0.64 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
rs7570532
C2orf88 ; MSTN
2 190058686 intron variant A/G snv 0.34 1
rs876657777
DMD
X 32644215 missense variant T/A snv 1
rs898604
LRP4
11 46896432 intron variant G/A snv 0.76 1
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs4680
COMT ; MIR4761
0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 249
rs4986791
TLR4
0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 182
rs1800629
TNF
0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 169
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47 77
rs1982073
TGFB1
0.649 0.640 19 41353016 missense variant G/A;C snv 32
rs2073618
COLEC10 ; TNFRSF11B
0.716 0.480 8 118951813 missense variant G/C snv 0.52 0.60 19
rs3087456
CIITA ; LOC105371080
0.742 0.480 16 10877045 intron variant G/A snv 0.53 14
rs3736228
LRP5
0.752 0.400 11 68433827 missense variant C/T snv 0.13 0.11 13