Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1569548274
MECP2
0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins 43
rs76763715
GBA
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 35
rs2273073
BMP2
0.882 0.120 20 6770235 missense variant T/C;G snv 2.4E-02 3
rs429358
APOE
0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 66
rs1883832
CD40
0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 52
rs587782995
PURA
0.708 0.360 5 140114480 missense variant T/C snv 42
rs1289324472
GBA
0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 21
rs700518
CYP19A1 ; MIR4713HG
0.732 0.320 15 51236915 synonymous variant T/C snv 0.43 0.40 13
rs9525641
TNFSF11
0.925 0.080 13 42573888 intron variant T/C snv 0.47 3
rs9536314
KL
0.925 0.160 13 33054001 missense variant T/A;G snv 0.14 3
rs312009
LRP5
0.925 0.080 11 68309770 upstream gene variant T/A;C snv 2
rs1569508922
ALG13
0.882 0.160 X 111681268 missense variant T/A snv 5
rs1653624
P2RX7 ; LOC105370032
0.925 0.120 12 121184717 missense variant T/A snv 1.5E-02 2
rs780508132
DMD
0.925 0.080 X 32386352 missense variant T/A snv 5.5E-06 1.9E-05 2
rs121908668
LRP5
0.882 0.240 11 68357673 missense variant G/T snv 5
rs755622
MIF-AS1 ; MIF
0.611 0.720 22 23894205 intron variant G/C snv 0.26 44
rs61816761
FLG ; FLG-AS1
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 43
rs121912438
SOD1
0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 58
rs751093906
SLC20A2
0.882 0.200 8 42472255 stop gained G/A;C snv 4.0E-06 8
rs4988321
LRP5
0.851 0.160 11 68406721 missense variant G/A;C snv 3.8E-02 4
rs121909149
SH3BP2
0.925 0.160 4 2831573 missense variant G/A;C snv 2
rs72648365
COL1A1
0.925 0.240 17 50193990 missense variant G/A;C snv 2
rs61753219
PEX6
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 64
rs587784177
NSD1
0.790 0.280 5 177283827 missense variant G/A snv 20
rs3087456
CIITA ; LOC105371080
0.742 0.480 16 10877045 intron variant G/A snv 0.53 14