RB1, RB transcriptional corepressor 1, 5925

N. diseases: 339; N. variants: 239
Disease: HYPOTRICHOSIS 8 ×
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: rs121434309
rs121434309 		1.000 0.040 13 48411859 missense variant C/T snv 1.2E-05 1.4E-05
CUI: C3279470
Disease: HYPOTRICHOSIS 8
HYPOTRICHOSIS 8 		Skin and Connective Tissue Diseases 0.800 1.000 1 2008 2008