Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1114167705
MSH6 ; FBXO11
2 47803500 frameshift variant A/AA;TC delins 2
rs1114167715
FBXO11 ; MSH6
2 47799432 frameshift variant GGAACAGACTGAGA/AGC delins 2
rs1114167723
MSH6 ; FBXO11
2 47805617 splice acceptor variant G/C;T snv 2
rs1114167724
FBXO11 ; MSH6
2 47801047 stop gained G/T snv 2
rs1114167725
FBXO11 ; MSH6
2 47798609 splice acceptor variant A/G snv 7.0E-06 2
rs1114167728
MSH6 ; FBXO11
2 47791089 frameshift variant C/- del 2
rs1114167748
FBXO11 ; MSH6
2 47798861 frameshift variant CTGTCA/TTCG delins 2
rs1114167756
MSH6 ; FBXO11
2 47799226 stop gained C/T snv 2
rs1114167765
MSH6 ; FBXO11
2 47799750 frameshift variant T/- del 2
rs1114167767
FBXO11 ; MSH6
2 47804948 frameshift variant C/- del 2
rs1114167771
FBXO11 ; MSH6
2 47800504 frameshift variant A/- del 2
rs1114167805
MSH2
2 47475233 frameshift variant C/- del 2
rs1114167831
MSH2
2 47408551 frameshift variant A/- del 2
rs1114167833
MSH2
2 47445555 frameshift variant C/- delins 2
rs1114167841
MSH2
2 47480690 splice acceptor variant TTATA/- del 7.0E-06 2
rs1114167845
MSH2
2 47414416 stop gained C/A;T snv 2
rs1114167877
MSH2
2 47410251 frameshift variant GTGTGAAT/- delins 2
rs113517055
PMS2
7 6003689 splice donor variant C/A;T snv 2
rs1302248679
MLH1
3 37025913 stop gained G/A;T snv 2
rs1416171624
MLH1
3 37047578 stop gained G/A;T snv 4.0E-06 2
rs1553331366
FBXO11 ; MSH6
2 47803498 frameshift variant -/T delins 2
rs1553332622
MSH6 ; FBXO11
2 47805621 frameshift variant A/- delins 2
rs1553332776
FBXO11 ; MSH6
2 47805709 splice donor variant T/C snv 2
rs1553333017
FBXO11 ; MSH6
2 47806251 frameshift variant -/T delins 2
rs1553333168
MSH6 ; FBXO11
2 47806353 splice donor variant TATGGTATGTGCA/- delins 2