Source: BEFREE

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: rs141021599
rs141021599
MSH2
2 47410293 missense variant C/G snv 1.2E-05 1.4E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2004 2004
dbSNP: rs41295182
rs41295182
MSH2
2 47482876 missense variant T/C;G snv 6.8E-05 7.0E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2015 2015
dbSNP: rs41295182
rs41295182
MSH2
2 47482876 missense variant T/C;G snv 6.8E-05 7.0E-05
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2015 2015
dbSNP: rs63751002
rs63751002
MSH2
2 47476405 missense variant A/G snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 1996 1996
dbSNP: rs63751002
rs63751002
MSH2
2 47476405 missense variant A/G snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 1996 1996
dbSNP: rs730881767
rs730881767
MSH2
2 47410095 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2004 2004
dbSNP: rs753237286
rs753237286
MSH2
2 47416335 missense variant G/A;C;T snv 1.6E-05; 4.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 < 0.001 1 2012 2012
dbSNP: rs753237286
rs753237286
MSH2
2 47416335 missense variant G/A;C;T snv 1.6E-05; 4.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 < 0.001 1 2012 2012
dbSNP: rs876658719
rs876658719
MSH2
2 47403310 missense variant G/A;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2004 2004
dbSNP: rs878853824
rs878853824
MSH2
2 47412558 stop gained C/T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2005 2005
dbSNP: rs1064793981
rs1064793981
MSH2
1.000 0.040 2 47475030 missense variant G/A snv
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs1295445617
rs1295445617
MSH2
1.000 0.040 2 47403398 synonymous variant G/A;C;T snv 4.5E-06; 4.5E-06
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs3732183
rs3732183
MSH2
1.000 0.040 2 47466820 intron variant G/A;T snv 0.34; 4.0E-06 0.40
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs555986369
rs555986369
MSH2
1.000 0.040 2 47463080 missense variant G/A snv 4.0E-06
CUI: C0334108
Disease: Multiple polyps
Multiple polyps 		0.010 1.000 1 2015 2015
dbSNP: rs587779134
rs587779134
MSH2
1.000 0.040 2 47476429 missense variant C/G snv
CUI: C1333600
Disease: Hereditary Malignant Neoplasm
Hereditary Malignant Neoplasm 		0.010 1.000 1 2014 2014
dbSNP: rs879254044
rs879254044
MSH2
0.925 0.040 2 47475148 missense variant G/A;C;T snv
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 1.000 1 2018 2018
dbSNP: rs879254044
rs879254044
MSH2
0.925 0.040 2 47475148 missense variant G/A;C;T snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 1.000 1 2018 2018
dbSNP: rs879254044
rs879254044
MSH2
0.925 0.040 2 47475148 missense variant G/A;C;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2018 2018
dbSNP: rs1064795747
rs1064795747
MSH2
0.925 0.080 2 47412433 missense variant T/C snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2010 2010
dbSNP: rs1064795747
rs1064795747
MSH2
0.925 0.080 2 47412433 missense variant T/C snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2010 2010
dbSNP: rs1064795747
rs1064795747
MSH2
0.925 0.080 2 47412433 missense variant T/C snv
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2010 2010
dbSNP: rs1064795747
rs1064795747
MSH2
0.925 0.080 2 47412433 missense variant T/C snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2010 2010
dbSNP: rs1114167857
rs1114167857
MSH2
1.000 0.080 2 47476442 missense variant T/C snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2010 2010
dbSNP: rs2303426
rs2303426
MSH2
0.790 0.080 2 47403411 intron variant C/A;G;T snv 1.9E-05; 0.47
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2010 2010
dbSNP: rs2303426
rs2303426
MSH2
0.790 0.080 2 47403411 intron variant C/A;G;T snv 1.9E-05; 0.47
CUI: C4525301
Disease: Stage IIB Gallbladder Cancer AJCC v8
Stage IIB Gallbladder Cancer AJCC v8 		0.010 1.000 1 2011 2011