RB1CC1, RB1 inducible coiled-coil 1, 9821

N. diseases: 47; N. variants: 2
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: rs113117391
rs113117391 		1.000 0.080 8 52628128 missense variant G/A snv 2.2E-04 2.5E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1129660
rs1129660 		8 52624756 synonymous variant A/G snv 0.24 0.17
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2017 2017