Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs41274221
MCM7 ; MIR106B ; MIR25 ; MIR93
0.851 0.160 7 100093577 mature miRNA variant C/T snv 6.4E-05 4.9E-05 6
rs386834266
MIR6764 ; YY1
1.000 0.120 14 100277470 missense variant C/G snv 2
rs780673010
RNF19A
8 100288040 missense variant C/G snv 4.0E-06 5.6E-05 1
rs754533102
PKD2L1
1.000 0.080 10 100299692 missense variant C/T snv 6.0E-05 7.0E-06 2
rs765576835
FANCD2
0.882 0.200 3 10036306 missense variant T/C snv 4.0E-06 4
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
rs7158663
MEG3
0.827 0.240 14 100853087 non coding transcript exon variant A/G snv 0.42 9
rs34012126
SLC12A9
7 100855831 frameshift variant G/- delins 1
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
rs2305160
NPAS2 ; NPAS2-AS1
0.776 0.200 2 100974842 missense variant A/G snv 0.71 0.75 9
rs4919510
SEMA4G ; MIR608 ; MRPL43
0.641 0.520 10 100975021 mature miRNA variant C/G snv 0.27 0.27 32
rs1456079929
PGR
0.851 0.120 11 101042001 missense variant C/A snv 8.0E-06 5
rs1293387481
PGR
0.925 0.080 11 101062537 missense variant G/A snv 4.0E-06 7.0E-06 3
rs759862685
PGR ; PGR-AS1
11 101127694 missense variant C/G;T snv 1.5E-04 1
rs1408080623
PGR ; PGR-AS1
0.851 0.080 11 101128058 missense variant G/A snv 5
rs776880789
PGR ; PGR-AS1
0.925 0.080 11 101128241 missense variant G/C;T snv 4.7E-06; 4.7E-06 4
rs1057519825
BTK
0.882 0.120 X 101356176 missense variant C/G snv 6
rs1057519826
BTK
0.882 0.120 X 101356177 missense variant A/T snv 6
rs104893829
VHL
0.882 0.240 3 10142088 missense variant C/T snv 2.0E-04 3.8E-04 4
rs5030809
VHL
0.776 0.320 3 10142139 missense variant T/C snv 1.3E-05 8
rs780178275
VHL
0.851 0.200 3 10146586 missense variant C/T snv 8.0E-06 7
rs28940297
VHL
0.882 0.240 3 10149811 missense variant T/C;G snv 2
rs5030821
VHL
0.827 0.280 3 10149823 missense variant G/A;C;T snv 4.0E-06 5