Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs17655
BIVM-ERCC5 ; ERCC5
0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 52
rs1057519695
NRAS
0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 35
rs11554290
NRAS
0.583 0.600 1 114713908 missense variant T/A;C;G snv 59
rs1057519834
NRAS
0.658 0.480 1 114713908 missense variant TG/CT mnv 31
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs121965059
OAT
0.925 0.080 10 124403892 missense variant G/A snv 1.6E-05 7.0E-06 4
rs61748181
TERT
0.827 0.120 5 1294051 missense variant C/T snv 2.2E-02 2.2E-02 10
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs1486253194
XPC
3 14146063 frameshift variant CCAGTATCCTGGCC/- del 7.0E-06 1
rs749251734
XPC ; LOC107986063
3 14147981 frameshift variant GACGATGTATCCA/- delins 1
rs1431381385
XPC
3 14167204 missense variant G/A snv 4.1E-06 1.4E-05 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
rs983889
FBXL7
5 15555377 intron variant G/T snv 0.55 1
rs2824215 21 17063088 intergenic variant A/C snv 0.34 1
rs3087468
NTHL1
16 2040233 missense variant C/A snv 3
rs863225281
ALK
0.776 0.200 2 29220829 missense variant G/C;T snv 12
rs281864719
ALK
0.763 0.240 2 29220831 missense variant A/C;G;T snv 14
rs150547487
SLX4
16 3597425 missense variant T/C snv 9.9E-04 4.1E-03 1
rs3745274
CYP2B6
0.672 0.480 19 41006936 missense variant G/A;T snv 4.0E-06; 0.27 30
rs371769427
U2AF1
0.683 0.400 21 43104346 missense variant G/A;T snv 8.0E-06 24
rs25487
XRCC1
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205