Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs10269148
STRA8
0.925 0.040 7 135230056 upstream gene variant C/A;G snv 2
rs1042064
EPHX2
0.925 0.040 8 27544615 3 prime UTR variant T/C snv 0.38 2
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs104893837
GNRHR ; UBA6-AS1
0.807 0.160 4 67740682 missense variant C/T snv 1.8E-03 1.3E-03 6
rs1059060
PMS2
0.925 0.040 7 5977709 missense variant T/A;C snv 3
rs10835638
FSHB ; LOC105376607
0.925 0.080 11 30230805 intron variant G/A;T snv 2
rs10842262
SOX5
0.851 0.040 12 24031610 intron variant G/C snv 0.43 5
rs10966811 1.000 0.040 9 25233486 intergenic variant G/A snv 0.32 2
rs11046992
SOX5
1.000 0.040 12 23584632 intron variant G/A;C;T snv 1
rs11204546
OR2W3
0.925 0.040 1 247896410 missense variant T/C;G snv 0.58; 4.0E-06 3
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs1136410
PARP1
0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 70
rs1138272
GSTP1
0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02 42
rs11703684
PIWIL3
1.000 0.040 22 24748945 missense variant C/G;T snv 0.23 1
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs121918346
DAZL
0.882 0.040 3 16598169 missense variant T/C;G snv 8.0E-06 5
rs12348
TUSC1
0.925 0.040 9 25677217 3 prime UTR variant T/C snv 0.44 3
rs12376894 1.000 0.040 9 25268869 intergenic variant A/G snv 0.35 1
rs1248142939
PMS2
0.925 0.040 7 5992006 missense variant G/A snv 2
rs12870438
EPSTI1
0.925 0.040 13 42906069 intron variant G/A snv 0.27 3
rs144848
BRCA2
0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 29
rs144944885
RPL23AP82 ; RABL2B
1.000 0.040 22 50776482 intron variant G/- delins 2
rs147894843
SEMG1
0.925 0.040 20 45208496 missense variant G/A snv 1.0E-04 1.3E-04 2
rs16895863
UBR2
1.000 0.040 6 42603608 synonymous variant A/T snv 0.20 0.21 1
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188