Disease: Congenital chromosomal disease
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
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs25487
XRCC1
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs77375493
INSL6 ; JAK2
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 187
rs13181
KLC3 ; ERCC2
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
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
rs3745274
CYP2B6
0.672 0.480 19 41006936 missense variant G/A;T snv 4.0E-06; 0.27 30
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