Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 174
rs1801131
MTHFR
0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 93
rs76763715
GBA
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 35
rs1800890
IL19
0.658 0.400 1 206776020 intron variant A/T snv 0.32 29
rs1289324472
GBA
0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 21
rs1801265
DPYD
0.763 0.280 1 97883329 missense variant A/G snv 0.28 13
rs2297595
DPYD
0.776 0.320 1 97699535 missense variant T/C snv 8.5E-02 8.1E-02 10
rs397518423
PIK3CD
0.790 0.240 1 9726972 missense variant G/A snv 10
rs67376798
DPYD
0.851 0.120 1 97082391 missense variant T/A snv 2.8E-03 3.3E-03 9
rs146249964
MPL
0.851 0.080 1 43337929 splice donor variant T/A snv 4.0E-04 1.7E-04 5
rs1553196096
CDC42
1 22086463 missense variant G/A snv 5
rs878853314
GBA
0.882 0.240 1 155239655 missense variant C/G snv 5
rs878853315
GBA
0.925 0.160 1 155236292 missense variant G/C snv 5
rs1537514
C1orf167 ; MTHFR
0.882 0.120 1 11788011 missense variant G/C snv 0.10 0.10 4
rs28928907
MPL
0.882 0.160 1 43338634 missense variant G/A;C snv 8.0E-06; 3.8E-04 4
rs6667202
IL19
0.882 0.120 1 206783747 intron variant C/A;T snv 4
rs768288280
DPYD
1.000 0.080 1 97740403 missense variant T/C snv 4.0E-06 2
rs587778516
MPL
1 43338592 missense variant G/A snv 4.0E-06 7.0E-06 1
rs780517804
GALE
1 23798701 missense variant G/A snv 2.0E-05 2.1E-05 1
rs1559810905
IFIH1
0.827 0.240 2 162273810 missense variant T/A snv 9
rs886043118
STAT1
0.925 0.040 2 191009916 frameshift variant T/- delins 5
rs5030764
GP9
0.882 0.080 3 129061921 missense variant A/G snv 4.8E-04 7.4E-04 5
rs3814055
NR1I2
0.925 0.040 3 119781188 5 prime UTR variant C/T snv 0.35 4
rs1523127
NR1I2
0.925 0.040 3 119782192 5 prime UTR variant C/A snv 0.48 3