Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs11554290
NRAS
0.583 0.600 1 114713908 missense variant T/A;C;G snv 59
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
rs281864719
ALK
0.763 0.240 2 29220831 missense variant A/C;G;T snv 14
rs863225281
ALK
0.776 0.200 2 29220829 missense variant G/C;T snv 12
rs1052133
OGG1 ; CAMK1
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs1431381385
XPC
3 14167204 missense variant G/A snv 4.1E-06 1.4E-05 1
rs1486253194
XPC
3 14146063 frameshift variant CCAGTATCCTGGCC/- del 7.0E-06 1
rs749251734
XPC ; LOC107986063
3 14147981 frameshift variant GACGATGTATCCA/- delins 1
rs770726832
XPC
3 14170483 missense variant T/G snv 5.2E-05 1
rs773629528
XPC ; LSM3
3 14178554 synonymous variant G/A;C snv 1.2E-05 7.0E-06 1
rs774690269
LSM3 ; XPC
3 14178562 missense variant G/A;C snv 1.2E-05 1
rs61748181
TERT
0.827 0.120 5 1294051 missense variant C/T snv 2.2E-02 2.2E-02 10
rs983889
FBXL7
5 15555377 intron variant G/T snv 0.55 1
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs662
PON1
0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 157
rs61754966
NBN
0.701 0.280 8 89978293 missense variant T/C;G snv 1.2E-03 23
rs1470755915
RUNX1T1
0.776 0.240 8 92005229 missense variant C/A snv 7.0E-06 10
rs927698341
RUNX1T1
0.776 0.240 8 92005280 synonymous variant C/A snv 4.0E-06 2.8E-05 10
rs1372047743
MCM4 ; PRKDC
8 47960120 missense variant C/T snv 9.7E-06 3
rs1383997
MSC-AS1
8 72005483 intron variant T/C snv 0.58 1
rs77375493
INSL6 ; JAK2
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 187