Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1502593
SCD
1.000 0.040 10 100349445 intron variant G/A snv 0.34 3
rs508384
SCD
10 100365004 downstream gene variant C/A;T snv 2
rs374019283
FANCD2
0.882 0.200 3 10039759 synonymous variant T/C snv 4.0E-05 2.2E-04 5
rs865862446
FANCD2
0.882 0.200 3 10049416 missense variant G/A snv 5
rs10132552
MEG3
1.000 0.040 14 100834675 non coding transcript exon variant T/C snv 0.25 3
rs10165970
NPAS2
0.708 0.320 2 100840527 intron variant G/A snv 0.16 18
rs17024869
NPAS2
0.708 0.320 2 100843581 intron variant T/C snv 8.3E-02 18
rs11160608
MEG3
14 100846756 non coding transcript exon variant A/C;T snv 2
rs7158663
MEG3
0.827 0.240 14 100853087 non coding transcript exon variant A/G snv 0.42 9
rs758448528
SLC12A9
7 100860024 missense variant G/T snv 4.0E-06 2
rs895520
NPAS2
0.689 0.320 2 100961475 intron variant G/A snv 0.35 23
rs7581886
NPAS2
0.708 0.320 2 100964784 intron variant C/T snv 0.92 18
rs4919510
SEMA4G ; MIR608 ; MRPL43
0.641 0.520 10 100975021 mature miRNA variant C/G snv 0.27 0.27 32
rs10895068
PGR ; PGR-AS1
0.752 0.240 11 101129483 5 prime UTR variant C/T snv 3.6E-02 14
rs1057519825
BTK
0.882 0.120 X 101356176 missense variant C/G snv 7
rs1057519826
BTK
0.882 0.120 X 101356177 missense variant A/T snv 7
rs2288349
DNMT1
0.882 0.120 19 10146569 intron variant G/A snv 0.36 0.35 5
rs780178275
VHL
0.851 0.200 3 10146586 missense variant C/T snv 8.0E-06 7
rs2228611
DNMT1
0.708 0.520 19 10156401 synonymous variant T/A;C snv 0.52 19
rs3730477
DPCD ; POLL
0.925 0.080 10 101580299 missense variant G/A snv 0.17 0.16 4
rs2228612
DNMT1
0.763 0.160 19 10162696 missense variant T/A;C;G snv 0.14 12
rs16999593
DNMT1
0.742 0.240 19 10180505 missense variant T/C snv 2.4E-02 9.6E-03 14
rs762471803
YAP1
0.925 0.040 11 102114201 missense variant T/G snv 6
rs1416580204
MOK
0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 49
rs1284806277
MOK
0.827 0.200 14 102251978 missense variant A/G snv 1.4E-05 13