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: rs1060500687
rs1060500687
MLH1
3 37047639 frameshift variant AA/A;AAA;G delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs1060500688
rs1060500688
MLH1
3 37001014 frameshift variant G/- delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs1060500689
rs1060500689
MLH1
3 37007000 stop gained C/G;T snv 4.0E-06
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs1060500692
rs1060500692
MLH1
3 37025668 frameshift variant GAGATGG/- delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs1060500703
rs1060500703
MLH1
3 37025639 frameshift variant T/- delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs1060500706
rs1060500706
MLH1
3 37050517 frameshift variant G/- delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
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: rs1064794331
rs1064794331
MLH1
3 37048557 frameshift variant -/TGTGCCCC delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs1064795341
rs1064795341
MLH1 ; EPM2AIP1
3 36993553 frameshift variant CGTGGCAGGGGTT/- delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs1064795441
rs1064795441
MLH1
1.000 0.080 3 37001028 frameshift variant T/- delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs1064796057
rs1064796057
MLH1
3 37011825 stop gained C/G;T snv
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs1248251121
rs1248251121
MLH1
3 37008892 stop gained G/A;C;T snv 8.0E-06
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs1302248679
rs1302248679
MLH1
3 37025913 stop gained G/A;T snv
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs1416171624
rs1416171624
MLH1
3 37047578 stop gained G/A;T snv 4.0E-06
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs1482654951
rs1482654951
MLH1
3 37020335 missense variant G/C;T snv 4.0E-06
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs1553638868
rs1553638868
MLH1
3 36996697 frameshift variant C/ATCTT delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
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: rs1553644123
rs1553644123
MLH1
1.000 0.080 3 37012011 stop gained C/T snv
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs1553645226
rs1553645226
MLH1
3 37014489 stop gained C/A;G snv
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs1553646602
rs1553646602
MLH1
3 37017511 frameshift variant C/- del
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: rs1553648023
rs1553648023
MLH1
3 37020365 frameshift variant G/- del
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs1553648195
rs1553648195
MLH1
3 37020436 frameshift variant CAAT/AATGTGCA delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs1553648201
rs1553648201
MLH1
1.000 0.160 3 37020444 splice donor variant ATGTACTTCACCCAGG/- delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs1553651130
rs1553651130
MLH1
3 37025859 frameshift variant A/TAT delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0