Source: CLINVAR ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057517551
rs1057517551
MSH6 ; FBXO11
3 1.000 0.160 2 47798890 frameshift variant -/T delins 0.700 0
dbSNP: rs1057517552
rs1057517552
MSH6 ; FBXO11
1 1.000 0.160 2 47803459 frameshift variant GTCCTATG/- delins 0.700 0
dbSNP: rs1553331659
rs1553331659
MSH6 ; FBXO11
2 1.000 0.160 2 47803615 frameshift variant A/-;AA delins 0.700 0
dbSNP: rs1553333093
rs1553333093
MSH6 ; FBXO11
1 1.000 0.160 2 47806310 frameshift variant GTAGAAGATTA/- delins 0.700 0
dbSNP: rs1553333370
rs1553333370
MSH6 ; FBXO11
1 1.000 0.160 2 47806485 frameshift variant CCAGGAG/- delins 0.700 0
dbSNP: rs1553333753
rs1553333753
MSH6 ; FBXO11
4 0.925 0.160 2 47806643 splice donor variant -/ATTT delins 0.700 0
dbSNP: rs1553408127
rs1553408127
MSH6
1 1.000 0.160 2 47783288 frameshift variant G/- del 0.700 0
dbSNP: rs1553408245
rs1553408245
MSH6
1 1.000 0.160 2 47783357 frameshift variant -/CTTCCCCA delins 0.700 0
dbSNP: rs1553408380
rs1553408380
MSH6
1 1.000 0.160 2 47783445 splice donor variant TCAACGGAGGGCTGCGGAGATCGGTAGCGCCTGCTGCCCCCACC/- delins 0.700 0
dbSNP: rs1553410230
rs1553410230
MSH6 ; FBXO11
1 1.000 0.160 2 47790975 stop gained C/A;T snv 0.700 0
dbSNP: rs1553414029
rs1553414029
MSH6 ; FBXO11
1 1.000 0.160 2 47800675 frameshift variant CC/- del 0.700 0
dbSNP: rs1553414239
rs1553414239
MSH6 ; FBXO11
2 0.925 0.160 2 47800856 frameshift variant AG/- del 0.700 0
dbSNP: rs1553414395
rs1553414395
MSH6 ; FBXO11
3 0.925 0.160 2 47801001 stop gained C/A;G;T snv 0.700 0
dbSNP: rs267608041
rs267608041
MSH6 ; FBXO11
3 1.000 0.160 2 47798718 frameshift variant A/-;AA delins 7.0E-06 0.700 0
dbSNP: rs267608064
rs267608064
MSH6 ; FBXO11
4 0.925 0.160 2 47799614 frameshift variant AAAA/-;AA delins 0.700 0
dbSNP: rs267608066
rs267608066
MSH6 ; FBXO11
2 0.925 0.160 2 47798713 stop gained C/G;T snv 0.700 0
dbSNP: rs267608077
rs267608077
MSH6 ; FBXO11
4 0.925 0.160 2 47799112 frameshift variant AGAGA/- delins 0.700 0
dbSNP: rs267608092
rs267608092
MSH6 ; FBXO11
4 0.925 0.160 2 47803553 frameshift variant TT/-;T;TTT delins 0.700 0
dbSNP: rs63749843
rs63749843
MSH6 ; FBXO11
7 0.827 0.240 2 47803449 stop gained C/A;G;T snv 0.700 0
dbSNP: rs63749874
rs63749874
MSH6 ; FBXO11
4 0.925 0.160 2 47799616 frameshift variant AAGA/- delins 0.700 0
dbSNP: rs63749999
rs63749999
MSH6 ; FBXO11
6 0.851 0.240 2 47801086 stop gained C/T snv 1.2E-05 0.700 0
dbSNP: rs63750139
rs63750139
MSH6 ; FBXO11
2 0.925 0.160 2 47806488 stop gained C/T snv 0.700 0
dbSNP: rs63750563
rs63750563
MSH6 ; FBXO11
4 0.925 0.160 2 47800996 stop gained C/A;T snv 4.8E-06 0.700 0
dbSNP: rs63750617
rs63750617
MSH6 ; FBXO11
5 0.851 0.160 2 47803473 missense variant C/G;T snv 4.0E-06; 9.5E-05 0.700 0
dbSNP: rs63750735
rs63750735
MSH6 ; FBXO11
3 0.925 0.160 2 47799789 frameshift variant AAAG/- del 0.700 0