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: rs267608059
rs267608059
0.882 0.240 2 47801050 stop gained G/T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs61753793
rs61753793
0.851 0.120 2 47799002 missense variant T/C snv 3.6E-05 5.6E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.710 1.000 1 2000 2000
dbSNP: rs1042821
rs1042821
0.732 0.280 2 47783349 missense variant G/A;C;T snv 0.18; 8.6E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2008 2009
dbSNP: rs1064793184
rs1064793184
0.851 0.080 2 47791055 missense variant A/G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1114167795
rs1114167795
0.851 0.080 2 47799482 missense variant C/T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs369042519
rs369042519
0.925 0.080 2 47803438 missense variant C/T snv 8.0E-06 5.6E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs374486449
rs374486449
0.925 0.080 2 47798814 missense variant A/C snv 2.0E-05 5.6E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs536562413
rs536562413
0.732 0.240 2 47799934 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs587779287
rs587779287
0.827 0.200 2 47806280 frameshift variant GTACATTATTTTC/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs763606858
rs763606858
0.882 0.200 2 47799854 missense variant G/A;T snv 2.8E-05; 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009