Source: ALL
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: rs1553331290
rs1553331290
MSH6 ; FBXO11
3 1.000 0.160 2 47803466 frameshift variant AT/- delins 0.700 0
dbSNP: rs1553331676
rs1553331676
MSH6 ; FBXO11
2 1.000 0.160 2 47803626 splice donor variant GCCTATTGTGTGCTTGTTACTGGACCAAATATGGGGGGCAAGTCTACGCTTATGAGACAGGTAAC/- del 0.700 0
dbSNP: rs1553332671
rs1553332671
MSH6 ; FBXO11
2 1.000 0.160 2 47805635 frameshift variant G/- del 0.700 0
dbSNP: rs1553332772
rs1553332772
MSH6 ; FBXO11
1 1.000 0.160 2 47805708 splice donor variant G/T snv 0.700 0
dbSNP: rs1553332996
rs1553332996
MSH6 ; FBXO11
1 1.000 0.160 2 47806234 stop gained -/AATAGCAAATGCAGTTGTTAAAGAACTTG delins 0.700 0
dbSNP: rs1553333421
rs1553333421
MSH6 ; FBXO11
2 1.000 0.160 2 47806499 frameshift variant -/A;GGA delins 0.700 0
dbSNP: rs1553333584
rs1553333584
MSH6 ; FBXO11
1 1.000 0.160 2 47806566 stop gained -/CTAATCTCCCAGAGGAAGTTAT delins 0.700 0
dbSNP: rs1553333594
rs1553333594
MSH6 ; FBXO11
1 1.000 0.160 2 47806567 frameshift variant -/T delins 0.700 0
dbSNP: rs1553333598
rs1553333598
MSH6 ; FBXO11
1 1.000 0.160 2 47806571 frameshift variant -/CTCCCAGAGGAAGTTATTC delins 0.700 0
dbSNP: rs1553333599
rs1553333599
MSH6 ; FBXO11
2 1.000 0.160 2 47806571 frameshift variant -/CTCCCAGAGGAAGTTATTCAAAA delins 0.700 0
dbSNP: rs1553333635
rs1553333635
MSH6 ; FBXO11
1 1.000 0.160 2 47806585 frameshift variant TATTCAAAAGGGACAT/- delins 0.700 0
dbSNP: rs1553333707
rs1553333707
MSH6 ; FBXO11
1 1.000 0.160 2 47806614 stop gained G/A;T snv 0.700 0
dbSNP: rs1553333753
rs1553333753
MSH6 ; FBXO11
4 0.925 0.160 2 47806643 splice donor variant -/ATTT delins 0.700 0
dbSNP: rs1553348668
rs1553348668
MSH2
1 1.000 0.160 2 47403211 frameshift variant -/G delins 0.700 0
dbSNP: rs1553348760
rs1553348760
MSH2
2 1.000 0.160 2 47403266 frameshift variant C/- del 0.700 0
dbSNP: rs1553350052
rs1553350052
MSH2
1 1.000 0.160 2 47408397 splice donor variant AGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATATAAGG/- delins 0.700 0
dbSNP: rs1553350126
rs1553350126
MSH2
2 0.925 0.200 2 47408456 frameshift variant -/AAGATCTTCTTCTGGTTCGTCA delins 0.700 0
dbSNP: rs1553350789
rs1553350789
MSH2
1 1.000 0.160 2 47410236 stop gained -/AGGAAACTAGGACTGTGTGAATTCCCTGATAATGATCAGTTCTCCAATCTTGAGGCTCTCCTCATCCAGATTG delins 0.700 0
dbSNP: rs1553350946
rs1553350946
MSH2
1 1.000 0.160 2 47410337 frameshift variant -/GAGA delins 0.700 0
dbSNP: rs1553351549
rs1553351549
MSH2
1 1.000 0.160 2 47412410 splice acceptor variant GATA/- delins 0.700 0
dbSNP: rs1553352366
rs1553352366
MSH2
1 1.000 0.160 2 47414263 splice acceptor variant TTTTAGGTTGCAGTTTCATCACTGTCTGCGGTAATCAAGTTTTTAGAACTCTTATCAGATGATTCCAACTTTGGACAGTTTGAACTGACTACTTTTGACTTCAGCCAGTATATGAAATTGGATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGTTAAAAATGTTGAATGGTTAAAAAATGTTTTCATTGACATATACTGAAGAAGCTTATAAAGGAGCTAAAATATTTTGAAATATTATTATACTTGGATTAGATAACTAGCTTTAAATGGCTGTATTTTTCTCTCCCCTCCTCCACTCCACTTTTTAACTTTTTTTTTTTTAAGTCAGAGTCTCACTTGTTCCCTAGGCCAGAGTGCAGTGGCACAATCTCAGCCCACTCTAACCTCCACCTCCCAAGTAGTTGGGATTACAGTTGCCTGCCACCATGCCTGGTTAATTTTTATATTTTTAGTAGGGTTGCGGGGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTTCTGACCTTAGGTGATCCTCCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGCTTGAGCCATCGT/- del 0.700 0
dbSNP: rs1553352462
rs1553352462
MSH2
1 1.000 0.160 2 47414321 frameshift variant ATGA/- del 0.700 0
dbSNP: rs1553356484
rs1553356484
MSH2
1 1.000 0.160 2 47429605 coding sequence variant -/GAGCCACTGCGCCCAGCAGATTCAAGCTTTTTAAATGGAATTTTGAGCTGATTTAGTTGAGACTTACGTGCTTAGTTGATAAATTTTAATTTTATACTAAAATATTTTACATTAATTCAAGTTAATTTATTTCAGATTGAATTTAGTGGAAGCTTTTGTAGAAGATGCAGAATTGAGGCAGACTTTACAAGAAGATTTACTTCGTCGATTCCCAGATCTTAACCGACTTGCCAAGAAGTTTCAAAGACAAGCAGCAAACTTACAAGATTGTTACCGACTCTATCAGGGTATAAATCAACTACCTAATGTTATACAGGCTCTGGAAAAACATGAAGGTAACAAGTGATTTTGTTTTTTTGTTTTCCTTCAACTCATACAATATATACTTGGCAATGTGCTGTCCTCATAAAGTTGGTGGTGGTGACTCACTCTTAGGACACATTCAGATTTCTTT delins 0.700 0
dbSNP: rs1553361162
rs1553361162
MSH2
1 1.000 0.160 2 47445563 frameshift variant -/A delins 0.700 0
dbSNP: rs1553365711
rs1553365711
MSH2
2 1.000 0.160 2 47463044 frameshift variant A/- delins 0.700 0