Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 99
rs731236
VDR
0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 81
rs1544410
VDR
0.542 0.760 12 47846052 intron variant C/A;G;T snv 78
rs429358 0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 66
rs1883832 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 52
rs7412 0.641 0.640 19 44908822 missense variant C/T snv 6.2E-02 7.9E-02 47
rs76763715
GBA
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 35
rs1289324472
GBA
0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 21
rs3736228 0.752 0.400 11 68433827 missense variant C/T snv 0.13 0.11 13
rs700518 0.732 0.320 15 51236915 synonymous variant T/C snv 0.43 0.40 13
rs2073617 0.776 0.360 8 118952044 upstream gene variant G/A snv 0.58 9
rs235768 0.807 0.160 20 6778468 missense variant A/G;T snv 0.67 8
rs4355801 0.882 0.120 8 118911634 regulatory region variant A/G;T snv 5
rs4988321 0.851 0.160 11 68406721 missense variant G/A;C snv 3.8E-02 4
rs749292 0.851 0.160 15 51266534 intron variant G/A snv 0.44 4
rs2273073 0.882 0.120 20 6770235 missense variant T/C;G snv 2.4E-02 3
rs312009 0.925 0.080 11 68309770 upstream gene variant T/A;C snv 2
rs780508132
DMD
0.925 0.080 X 32386352 missense variant T/A snv 5.5E-06 1.9E-05 2