Source: CLINVAR

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: rs876660095
rs876660095
MSH6
1.000 0.160 2 47783236 start lost G/A;C;T snv 4.1E-06
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 1 2011 2011
dbSNP: rs876660095
rs876660095
MSH6
1.000 0.160 2 47783236 start lost G/A;C;T snv 4.1E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs876660095
rs876660095
MSH6
1.000 0.160 2 47783236 start lost G/A;C;T snv 4.1E-06
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 0
dbSNP: rs1558644683
rs1558644683
MSH6
2 47783239 stop gained GC/CT mnv
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs786201042
rs786201042
MSH6
0.827 0.240 2 47783243 stop gained C/G;T snv 2.5E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 6 2010 2018
dbSNP: rs786201042
rs786201042
MSH6
0.827 0.240 2 47783243 stop gained C/G;T snv 2.5E-05
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.710 1.000 3 2010 2015
dbSNP: rs786201042
rs786201042
MSH6
0.827 0.240 2 47783243 stop gained C/G;T snv 2.5E-05
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 2 2010 2015
dbSNP: rs786201042
rs786201042
MSH6
0.827 0.240 2 47783243 stop gained C/G;T snv 2.5E-05
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 1.000 1 2015 2015
dbSNP: rs786201042
rs786201042
MSH6
0.827 0.240 2 47783243 stop gained C/G;T snv 2.5E-05
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.700 0
dbSNP: rs786201042
rs786201042
MSH6
0.827 0.240 2 47783243 stop gained C/G;T snv 2.5E-05
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.700 0
dbSNP: rs1553408127
rs1553408127
MSH6
1.000 0.160 2 47783288 frameshift variant G/- del
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 0
dbSNP: rs1553408136
rs1553408136
MSH6
2 47783290 frameshift variant -/G delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs1553408158
rs1553408158
MSH6
2 47783310 frameshift variant G/- delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs1558644886
rs1558644886
MSH6
2 47783316 frameshift variant AC/- delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs1558644995
rs1558644995
MSH6
2 47783343 frameshift variant C/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1553408245
rs1553408245
MSH6
1.000 0.160 2 47783357 frameshift variant -/CTTCCCCA delins
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 0
dbSNP: rs1553408267
rs1553408267
MSH6
2 47783376 frameshift variant -/AGCGAGGCTGGGCCTGG delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1114167719
rs1114167719
MSH6
2 47783387 stop gained G/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1558645195
rs1558645195
MSH6
2 47783396 frameshift variant CTGGGCCCAGGCCC/- delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs876658296
rs876658296
MSH6
2 47783400 frameshift variant CCAGGCCCTTGGC/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1553408306
rs1553408306
MSH6
2 47783402 frameshift variant C/- delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs1553408380
rs1553408380
MSH6
1.000 0.160 2 47783445 splice donor variant TCAACGGAGGGCTGCGGAGATCGGTAGCGCCTGCTGCCCCCACC/- delins
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 0
dbSNP: rs1553408388
rs1553408388
MSH6
2 47783453 stop gained G/T snv
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 4 2006 2015
dbSNP: rs1553408388
rs1553408388
MSH6
2 47783453 stop gained G/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 2006 2015
dbSNP: rs1114167734
rs1114167734
MSH6
2 47783493 missense variant G/A;C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0