CAV1, caveolin 1, 857

N. diseases: 633; N. variants: 29
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: rs1213469537
rs1213469537 		0.882 0.080 7 116559145 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.780 1.000 8 2002 2013
dbSNP: rs3807987
rs3807987 		0.732 0.280 7 116539780 intron variant G/A snv 7.6E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2017 2019
dbSNP: rs7804372
rs7804372 		0.716 0.320 7 116554174 intron variant T/A snv 0.27
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2017 2019
dbSNP: rs1997623
rs1997623 		0.807 0.160 7 116525306 missense variant A/C;G snv 0.86
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019