Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs878853787
rs878853787
MLH1
3 37050630 stop gained -/A delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 9 1996 2016
dbSNP: rs587778989
rs587778989
MLH1
1.000 0.160 3 37050599 frameshift variant -/A delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 3 2003 2010
dbSNP: rs587781554
rs587781554
MLH1
1.000 0.160 3 37020395 frameshift variant -/A delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 1 2015 2015
dbSNP: rs63751259
rs63751259
MLH1
1.000 0.160 3 37020362 frameshift variant -/A delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 1 2001 2001
dbSNP: rs1060500707
rs1060500707
MLH1
3 37025644 stop gained -/A delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs878853792
rs878853792
MLH1
3 37017540 frameshift variant -/A delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs63750057
rs63750057
MLH1 ; EPM2AIP1
1.000 0.160 3 36993584 frameshift variant -/A;CCCA delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs267607903
rs267607903
MLH1
1.000 0.160 3 37050575 frameshift variant -/AACA delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 7 1996 2016
dbSNP: rs878853794
rs878853794
MLH1
3 37020382 frameshift variant -/AG delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs1553646681
rs1553646681
MLH1
3 37017546 frameshift variant -/CA delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs1553662800
rs1553662800
MLH1
3 37047572 frameshift variant -/CCAGATAGTCCAGA ins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 2 2005 2014
dbSNP: rs1553653037
rs1553653037
MLH1
3 37028863 frameshift variant -/CG ins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs267607791
rs267607791
MLH1
1.000 0.160 3 37014545 splice donor variant -/T delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 4 1995 2013
dbSNP: rs1060500699
rs1060500699
MLH1
3 37025702 frameshift variant -/T delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 3 2015 2017
dbSNP: rs267607822
rs267607822
MLH1
1.000 0.160 3 37025643 frameshift variant -/T delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 1 2007 2007
dbSNP: rs63751689
rs63751689
MLH1
1.000 0.160 3 37028927 frameshift variant -/T delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 1 2003 2003
dbSNP: rs1553642079
rs1553642079
MLH1
3 37007013 frameshift variant -/T delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs878853778
rs878853778
MLH1
3 37028828 frameshift variant -/T delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs1553665683
rs1553665683
MLH1
3 37050540 stop gained -/TATAAAGCCTTGCGCTCACACATTCTGCCTC delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 6 1999 2014
dbSNP: rs1064794331
rs1064794331
MLH1
3 37048557 frameshift variant -/TGTGCCCC delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs267607892
rs267607892
MLH1
1.000 0.160 3 37050647 frameshift variant -/TGTT delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 1 1994 1994
dbSNP: rs876659681
rs876659681
MLH1
1.000 0.080 3 37048984 frameshift variant -/TT ins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 6 1999 2014
dbSNP: rs1559530646
rs1559530646
MLH1
3 37012047 frameshift variant A/- delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs878853777
rs878853777
MLH1
3 37028813 frameshift variant A/- delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs63750867
rs63750867
MLH1
3 36996628 frameshift variant A/-;AA delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0