Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs10871700 18 72302261 intergenic variant A/G snv 0.72 1
rs10872257 6 122969896 intergenic variant C/T snv 0.44 1
rs11780883 8 83834281 intergenic variant G/A;T snv 0.43 1
rs28447350 13 64923076 intergenic variant G/A snv 1
rs414056 18 3460752 downstream gene variant T/C;G snv 1.7E-02 1
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs751995154
ACADVL ; MIR324
1.000 0.200 17 7224011 missense variant G/A;C snv 2.8E-05 3.5E-05 3
rs1373863123
ACTB
1.000 0.080 7 5529540 missense variant G/A snv 4
rs1815739
ACTN3
0.763 0.240 11 66560624 stop gained C/T snv 0.37 17
rs867317000
AMPD2
1 109628710 missense variant G/A snv 7.0E-06 1
rs137854521
ANO5
0.851 0.200 11 22221100 frameshift variant -/A delins 9
rs375014127
ANO5
1.000 0.120 11 22262162 missense variant G/A;T snv 4.0E-06; 6.8E-05 5
rs1057518855
ANO5
11 22270443 splice donor variant -/T delins 1
rs781049584
APP
0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06 18
rs111033570
ASTN2 ; TRIM32
0.925 0.160 9 116699201 missense variant G/A snv 8.0E-06 4
rs267606673
ATP7A ; PGK1
0.776 0.240 X 78029314 missense variant C/T snv 9
rs121918312
BAG3
0.776 0.160 10 119672373 missense variant C/A;T snv 11
rs397516881
BAG3
0.827 0.120 10 119676917 missense variant G/A snv 7
rs9806699
C15orf48 ; LOC105376714
15 45448194 intron variant G/A snv 0.31 1
rs28930069
CACNA1S
0.882 0.200 1 201053539 missense variant G/A;C snv 5
rs730882052
CASQ1
1.000 1 160195976 missense variant A/G snv 2
rs72546667
CAV3 ; SSUH2
3 8745577 missense variant G/A snv 8.9E-03 3.5E-02 1
rs73089338
CDCP1
3 45114350 intron variant T/C snv 5.5E-02 1
rs747453853
CHEK2 ; HSCB
22 28742247 missense variant G/A snv 4.0E-06 2
rs55960271
CLCN1
0.882 0.120 7 143351678 stop gained C/A;T snv 4.0E-06; 2.9E-03 5