Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs10136427
LOC105370572
0.925 14 75513546 intergenic variant C/T snv 0.21 2
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1057519695
NRAS
0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 35
rs1057519834
NRAS
0.658 0.480 1 114713908 missense variant TG/CT mnv 31
rs10741657
CYP2R1
0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 34
rs10808556
CASC8 ; POU5F1B ; PCAT1 ; CCAT2
0.925 0.080 8 127400902 non coding transcript exon variant C/T snv 0.50 2
rs10877012
CYP27B1 ; METTL1
0.763 0.280 12 57768302 intron variant G/C;T snv 10
rs11175834
LINC02454 ; LOC100507065
0.925 0.080 12 65598856 intron variant C/T snv 0.14 2
rs11214077
SDHD ; TIMM8B
0.752 0.120 11 112087953 missense variant A/G snv 6.6E-03 6.7E-03 12
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs11554290
NRAS
0.583 0.600 1 114713908 missense variant T/A;C;G snv 59
rs116909374 0.776 0.120 14 36269155 regulatory region variant C/T snv 2.3E-02 11
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs1220597
SPATA13
0.925 13 24243875 intron variant C/T snv 0.51 2
rs12794714
CYP2R1
0.708 0.360 11 14892029 synonymous variant G/A snv 0.41 0.35 15
rs12885300
DIO2 ; DIO2-AS1
0.790 0.200 14 80211923 5 prime UTR variant C/A;G;T snv 7
rs12990503
DIRC3
0.925 0.080 2 217429494 intron variant C/G snv 0.64 2
rs1302723597
GGCT
1.000 7 30497778 missense variant A/C;G snv 8.1E-06; 8.1E-06 1
rs13184587
ARSB
0.925 5 78910960 intron variant G/A;T snv 2
rs1447295
CASC8
0.658 0.400 8 127472793 intron variant A/C;T snv 29
rs16962916 0.925 16 13806476 intergenic variant A/C;G snv 2
rs17739370 0.925 4 177374275 intergenic variant C/T snv 0.38 2
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 53