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: rs63749873
rs63749873
0.882 0.160 2 47795903 stop gained C/G snv 4.0E-06 1.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 14 1999 2015
dbSNP: rs63750767
rs63750767
0.925 0.160 2 47806588 stop gained -/TCAAAAGGGACATAGAAAA delins 7.0E-06
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 1.000 13 2005 2016
dbSNP: rs63751017
rs63751017
0.851 0.240 2 47800714 stop gained C/A;T snv 1.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 13 2003 2017
dbSNP: rs63749843
rs63749843
0.827 0.240 2 47803449 stop gained C/A;G;T snv
Hereditary Nonpolyposis Colorectal Cancer
0.700 1.000 12 2002 2018
dbSNP: rs63751017
rs63751017
0.851 0.240 2 47800714 stop gained C/A;T snv 1.4E-05
Hereditary Nonpolyposis Colorectal Cancer
0.700 1.000 12 2003 2017
dbSNP: rs267608094
rs267608094
0.925 0.160 2 47806641 stop gained C/A;T snv 4.1E-06; 4.1E-06
Hereditary Nonpolyposis Colorectal Cancer
0.700 1.000 11 2005 2016
dbSNP: rs267608094
rs267608094
0.925 0.160 2 47806641 stop gained C/A;T snv 4.1E-06; 4.1E-06
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 1.000 10 2005 2016
dbSNP: rs267608094
rs267608094
0.925 0.160 2 47806641 stop gained C/A;T snv 4.1E-06; 4.1E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 9 2006 2016
dbSNP: rs63750909
rs63750909
0.925 0.160 2 47799427 stop gained C/A;G;T snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 9 2004 2017
dbSNP: rs63749873
rs63749873
0.882 0.160 2 47795903 stop gained C/G snv 4.0E-06 1.4E-05
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 1.000 8 1999 2014
dbSNP: rs63750258
rs63750258
0.851 0.200 2 47800966 stop gained G/A;C;T snv
Hereditary Nonpolyposis Colorectal Cancer
0.700 1.000 8 2001 2015
dbSNP: rs63750767
rs63750767
0.925 0.160 2 47806588 stop gained -/TCAAAAGGGACATAGAAAA delins 7.0E-06
Hereditary Nonpolyposis Colorectal Cancer
0.700 1.000 7 2003 2016
dbSNP: rs63751127
rs63751127
0.882 0.200 2 47800177 stop gained C/A;T snv 4.0E-06; 4.0E-06
Hereditary Nonpolyposis Colorectal Cancer
0.700 1.000 7 2004 2017
dbSNP: rs63749873
rs63749873
0.882 0.160 2 47795903 stop gained C/G snv 4.0E-06 1.4E-05
Hereditary Nonpolyposis Colorectal Cancer
0.700 1.000 6 1999 2018
dbSNP: rs63749999
rs63749999
0.851 0.240 2 47801086 stop gained C/T snv 1.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 6 1999 2016
dbSNP: rs786201042
rs786201042
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: rs587779246
rs587779246
1.000 0.160 2 47800747 stop gained C/A;T snv 4.0E-06
Hereditary Nonpolyposis Colorectal Cancer
0.700 1.000 5 2011 2016
dbSNP: rs587782111
rs587782111
1.000 0.160 2 47804946 stop gained -/A delins
Hereditary Nonpolyposis Colorectal Cancer
0.700 1.000 5 2011 2017
dbSNP: rs63749843
rs63749843
0.827 0.240 2 47803449 stop gained C/A;G;T snv
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 1.000 5 2002 2014
dbSNP: rs63750909
rs63750909
0.925 0.160 2 47799427 stop gained C/A;G;T snv 4.0E-06
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 1.000 5 2004 2012
dbSNP: rs63751017
rs63751017
0.851 0.240 2 47800714 stop gained C/A;T snv 1.4E-05
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 1.000 5 2003 2013
dbSNP: rs63751127
rs63751127
0.882 0.200 2 47800177 stop gained C/A;T snv 4.0E-06; 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 5 2004 2016
dbSNP: rs1553408388
rs1553408388
2 47783453 stop gained G/T snv
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 1.000 4 2006 2015
dbSNP: rs1553408388
rs1553408388
2 47783453 stop gained G/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 4 2006 2015
dbSNP: rs200492211
rs200492211
1.000 0.160 2 47801125 stop gained C/G;T snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 4 2010 2015