MSH2, mutS homolog 2, 4436

N. diseases: 490; N. variants: 777
Disease: Colorectal Carcinoma ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587779973
rs587779973 		1.000 0.080 2 47410334 missense variant G/A snv 1.6E-05 3.5E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 4 1998 2005
dbSNP: rs63749907
rs63749907 		1.000 0.080 2 47403229 missense variant G/A;T snv 1.4E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 4 1998 2005
dbSNP: rs63749982
rs63749982 		1.000 0.080 2 47475121 missense variant A/G snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 4 1998 2005
dbSNP: rs63750006
rs63750006 		0.882 0.160 2 47429920 stop gained C/A;G;T snv 5.5E-04; 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 4 1998 2005
dbSNP: rs63750492
rs63750492 		0.925 0.160 2 47466663 missense variant G/T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 4 1998 2005
dbSNP: rs63750716
rs63750716 		0.925 0.160 2 47410232 missense variant A/G snv 4.7E-04 1.3E-04
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 4 1998 2005
dbSNP: rs1114167806
rs1114167806 		0.827 0.200 2 47463096 stop gained ATGA/-;ATGAATGA delins
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs17224367
rs17224367 		0.882 0.160 2 47429833 missense variant C/G;T snv 1.5E-03
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs63749879
rs63749879 		1.000 0.080 2 47416377 missense variant G/A snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs63751108
rs63751108 		0.827 0.240 2 47429881 stop gained C/T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs63751260
rs63751260 		1.000 0.080 2 47403309 missense variant G/A snv 8.8E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs63750875
rs63750875 		0.742 0.280 2 47475171 missense variant G/A;C snv 1.6E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.040 1.000 4 2004 2011
dbSNP: rs1064795747
rs1064795747 		0.925 0.080 2 47412433 missense variant T/C snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs1114167857
rs1114167857 		1.000 0.080 2 47476442 missense variant T/C snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs17217772
rs17217772 		0.790 0.240 2 47410107 missense variant A/C;G;T snv 5.8E-03
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs374399939
rs374399939 		1.000 0.080 2 47478357 missense variant A/G snv 8.0E-06 7.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs63749984
rs63749984 		0.925 0.160 2 47410340 stop gained G/C;T snv 1.6E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2004 2004
dbSNP: rs780178752
rs780178752 		0.925 0.080 2 47403350 synonymous variant C/T snv 4.3E-06 1.4E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2007 2007