MSH2, mutS homolog 2, 4436

N. diseases: 490; N. variants: 777
Disease: Malignant neoplasm of breast ×
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: rs587779157
rs587779157 		0.827 0.240 2 47408486 inframe deletion GAAGTT/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs4987188
rs4987188 		0.790 0.200 2 47416318 missense variant G/A;T snv 1.3E-02; 2.0E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 2005 2019
dbSNP: rs17217772
rs17217772 		0.790 0.240 2 47410107 missense variant A/C;G;T snv 5.8E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2005 2005
dbSNP: rs2303425
rs2303425 		0.790 0.120 2 47403074 5 prime UTR variant T/C snv 0.10
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2303428
rs2303428 		0.776 0.240 2 47476361 splice region variant T/A;C;G snv 4.0E-06; 0.12
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016