Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1289324472
GBA
0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 21
rs12979860 0.547 0.520 19 39248147 intron variant C/T snv 0.39 84
rs13194491 1.000 0.040 6 27069301 intergenic variant C/T snv 4.8E-02 5
rs1375515 1.000 0.040 3 54442613 intron variant C/T snv 0.58 1
rs1470452230 0.925 0.120 9 135561895 missense variant A/C snv 7.0E-06 2
rs1531289
KDR
0.925 0.080 4 55089065 intron variant T/A;C snv 2
rs1554544862 1.000 0.040 8 41694003 frameshift variant TGGAACTTCCGGCGCCGGGG/- delins 1
rs1555545033 0.807 0.160 17 40088306 missense variant C/T snv 7
rs1559810905 0.827 0.240 2 162273810 missense variant T/A snv 9
rs1617640
EPO
0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv 15
rs1695 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs17235409 0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06 31
rs1799945 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 226
rs1800562 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 262
rs1801133 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 174
rs1868505 1.000 0.040 3 54387228 intron variant T/C snv 0.86 1
rs1884444 0.637 0.600 1 67168129 missense variant G/T snv 0.52 0.51 34
rs1934951 0.925 0.160 10 95038791 intron variant C/T snv 0.24 4
rs2032582 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs2071346 0.925 0.160 8 127736777 intron variant G/T snv 7.1E-02 3
rs2245214 0.827 0.240 6 106214866 intron variant C/G snv 0.42 6
rs267607201 0.807 0.120 19 12885001 missense variant C/T snv 7
rs28933979
TTR
0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 70
rs28940298
VHL
0.776 0.280 3 10149921 missense variant C/T snv 2.1E-04 1.0E-04 9
rs3024505 0.790 0.320 1 206766559 upstream gene variant G/A snv 0.11 10