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: 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
dbSNP: rs120074160
rs120074160 		0.925 7 66994286 stop gained T/A snv 1.7E-04 1.0E-03
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs120074160
rs120074160 		0.925 7 66994286 stop gained T/A snv 1.7E-04 1.0E-03
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
SHWACHMAN-DIAMOND SYNDROME 1 		0.700 0
dbSNP: rs120074160
rs120074160 		0.925 7 66994286 stop gained T/A snv 1.7E-04 1.0E-03
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs120074160
rs120074160 		0.925 7 66994286 stop gained T/A snv 1.7E-04 1.0E-03
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs120074160
rs120074160 		0.925 7 66994286 stop gained T/A snv 1.7E-04 1.0E-03
CUI: C0457756
Disease: Tooth absent
Tooth absent 		0.700 0
dbSNP: rs201070132
rs201070132 		1.000 7 66993288 missense variant C/A;T snv 1.2E-05; 9.1E-05
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
SHWACHMAN-DIAMOND SYNDROME 1 		0.700 0
dbSNP: rs373730800
rs373730800 		0.925 7 66995320 missense variant T/C;G snv 6.0E-05
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		0.700 0
dbSNP: rs373730800
rs373730800 		0.925 7 66995320 missense variant T/C;G snv 6.0E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs373730800
rs373730800 		0.925 7 66995320 missense variant T/C;G snv 6.0E-05
CUI: C0239998
Disease: Recurrent infections
Recurrent infections 		Pathological Conditions, Signs and Symptoms; Infections; Musculoskeletal Diseases 0.700 0
dbSNP: rs120074160
rs120074160 		0.925 7 66994286 stop gained T/A snv 1.7E-04 1.0E-03
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		0.010 1.000 1 2005 2005
dbSNP: rs1376011266
rs1376011266 		1.000 7 66993248 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		0.010 1.000 1 2015 2015