SBDS, SBDS ribosome maturation factor, 51119

N. diseases: 105; N. variants: 17
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: rs113993993
rs113993993
0.851 0.040 7 66994210 splice donor variant A/C;G snv 4.0E-06; 3.9E-03
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs120074160
rs120074160
0.925 7 66994286 stop gained T/A snv 1.7E-04 1.0E-03
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
Pathological Conditions, Signs and Symptoms 0.700 0