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: rs1057517552
rs1057517552
MSH6 ; FBXO11
1 1.000 0.160 2 47803459 frameshift variant GTCCTATG/- 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: 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: rs63751234
rs63751234
MSH6 ; FBXO11
1 1.000 0.160 2 47799585 frameshift variant C/- del 0.700 0
dbSNP: rs1553331659
rs1553331659
MSH6 ; FBXO11
2 1.000 0.160 2 47803615 frameshift variant A/-;AA delins 0.700 0
dbSNP: rs1553414239
rs1553414239
MSH6 ; FBXO11
2 0.925 0.160 2 47800856 frameshift variant AG/- del 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: rs63750139
rs63750139
MSH6 ; FBXO11
2 0.925 0.160 2 47806488 stop gained C/T snv 0.700 0
dbSNP: rs63751407
rs63751407
MSH6 ; FBXO11
2 0.925 0.160 2 47801034 frameshift variant TC/- delins 0.700 0
dbSNP: rs777159874
rs777159874
MSH6 ; FBXO11
2 1.000 0.160 2 47799853 frameshift variant G/- delins 0.700 0
dbSNP: rs587779241
rs587779241
MSH6 ; FBXO11
3 0.925 0.160 2 47800517 frameshift variant -/T delins 0.700 1.000 1 2010 2010
dbSNP: rs730881827
rs730881827
MSH6 ; FBXO11
3 1.000 0.160 2 47800815 frameshift variant AA/- del 0.700 1.000 1 2016 2016
dbSNP: rs878853702
rs878853702
MSH6 ; FBXO11
3 1.000 0.160 2 47799332 frameshift variant AT/- delins 0.700 1.000 1 2016 2016
dbSNP: rs1057517551
rs1057517551
MSH6 ; FBXO11
3 1.000 0.160 2 47798890 frameshift variant -/T delins 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: rs63750735
rs63750735
MSH6 ; FBXO11
3 0.925 0.160 2 47799789 frameshift variant AAAG/- del 0.700 0
dbSNP: rs786201084
rs786201084
MSH6 ; FBXO11
3 1.000 0.160 2 47806300 frameshift variant -/T ins 0.700 0
dbSNP: rs864622153
rs864622153
MSH6 ; FBXO11
3 1.000 0.160 2 47799674 stop gained C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs267608122
rs267608122
MSH6 ; FBXO11
4 0.925 0.160 2 47806651 missense variant G/A;C snv 0.700 1.000 10 1994 2016