SBDS, SBDS ribosome maturation factor, 51119

N. diseases: 105; N. variants: 17
Disease: Aplastic Anemia ×
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: rs113993992
rs113993992 		0.882 0.040 7 66994211 splice donor variant C/G snv 4.0E-06 2.1E-05
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs113993993
rs113993993 		0.851 0.040 7 66994210 splice donor variant A/C;G snv 4.0E-06; 3.9E-03
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		Hemic and Lymphatic Diseases 0.700 0