MSH6, mutS homolog 6, 2956

N. diseases: 296; N. variants: 642
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: rs1021631442
rs1021631442
0.882 0.200 2 47806279 missense variant G/A snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
Digestive System Diseases; Neoplasms 0.700 1.000 1 2012 2012
dbSNP: rs1553413710
rs1553413710
0.882 0.200 2 47800325 missense variant C/T snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
Digestive System Diseases; Neoplasms 0.700 1.000 1 2013 2013
dbSNP: rs267608058
rs267608058
0.851 0.200 2 47800130 frameshift variant TCAG/- delins 7.0E-06
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs267608078
rs267608078
0.882 0.160 2 47803501 frameshift variant C/-;CC;CCC delins
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs63750767
rs63750767
0.925 0.160 2 47806588 stop gained -/TCAAAAGGGACATAGAAAA delins 7.0E-06
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs864622607
rs864622607
0.882 0.200 2 47803678 missense variant T/G snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs869312770
rs869312770
0.925 0.160 2 47800829 frameshift variant AG/- delins
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1042821
rs1042821
0.732 0.280 2 47783349 missense variant G/A;C;T snv 0.18; 8.6E-06
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
Digestive System Diseases; Neoplasms 0.020 1.000 2 2009 2009
dbSNP: rs536562413
rs536562413
0.732 0.240 2 47799934 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
Digestive System Diseases; Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs587780669
rs587780669
0.925 0.080 2 47798999 missense variant C/A;G;T snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
Digestive System Diseases; Neoplasms 0.010 1.000 1 2009 2009