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: rs373730800
rs373730800 		0.925 7 66995320 missense variant T/C;G snv 6.0E-05
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
SHWACHMAN-DIAMOND SYNDROME 1 		0.800 1.000 4 2003 2014
dbSNP: rs113993991
rs113993991 		1.000 7 66994286 stop gained TA/AG mnv
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		0.710 1.000 15 2003 2018
dbSNP: rs113993993
rs113993993 		0.851 0.040 7 66994210 splice donor variant A/C;G snv 4.0E-06; 3.9E-03
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
SHWACHMAN-DIAMOND SYNDROME 1 		0.700 1.000 10 2003 2015
dbSNP: rs113993992
rs113993992 		0.882 0.040 7 66994211 splice donor variant C/G snv 4.0E-06 2.1E-05
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		0.700 1.000 5 2003 2014
dbSNP: rs113993993
rs113993993 		0.851 0.040 7 66994210 splice donor variant A/C;G snv 4.0E-06; 3.9E-03
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		0.700 1.000 4 2003 2013
dbSNP: rs1554341363
rs1554341363 		1.000 7 66993416 stop gained A/C snv
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
SHWACHMAN-DIAMOND SYNDROME 1 		0.700 1.000 4 2003 2014
dbSNP: rs1554341499
rs1554341499 		1.000 7 66994271 missense variant T/C snv
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
SHWACHMAN-DIAMOND SYNDROME 1 		0.700 1.000 4 2003 2014
dbSNP: rs1554341516
rs1554341516 		1.000 7 66994339 missense variant T/C snv
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
SHWACHMAN-DIAMOND SYNDROME 1 		0.700 1.000 4 2003 2014
dbSNP: rs28942099
rs28942099 		1.000 7 66995394 missense variant G/T snv 8.0E-06
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
SHWACHMAN-DIAMOND SYNDROME 1 		0.700 1.000 4 2003 2014
dbSNP: rs113993995
rs113993995 		0.925 7 66993299 missense variant C/G snv 7.0E-06
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
SHWACHMAN-DIAMOND SYNDROME 1 		0.700 1.000 1 2011 2011
dbSNP: rs113993996
rs113993996 		1.000 7 66991256 missense variant G/A;C snv 8.0E-06; 4.0E-06
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
SHWACHMAN-DIAMOND SYNDROME 1 		0.700 1.000 1 2011 2011
dbSNP: rs113993990
rs113993990 		1.000 7 66995298 frameshift variant C/- delins
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		0.700 0
dbSNP: rs113993992
rs113993992 		0.882 0.040 7 66994211 splice donor variant C/G snv 4.0E-06 2.1E-05
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
SHWACHMAN-DIAMOND SYNDROME 1 		0.700 0
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: C0423224
Disease: Sunken eyes
Sunken eyes 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System 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: C0349588
Disease: Short stature
Short stature 		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
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: rs113993993
rs113993993 		0.851 0.040 7 66994210 splice donor variant A/C;G snv 4.0E-06; 3.9E-03
CUI: C0457756
Disease: Tooth absent
Tooth absent 		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: C2684859
Disease: APLASTIC ANEMIA, SUSCEPTIBILITY TO (finding)
APLASTIC ANEMIA, SUSCEPTIBILITY TO (finding) 		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: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs113993994
rs113993994 		1.000 7 66993376 frameshift variant CTTT/- delins 1.4E-05
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		0.700 0
dbSNP: rs113993995
rs113993995 		0.925 7 66993299 missense variant C/G snv 7.0E-06
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		0.700 0
dbSNP: rs113993997
rs113993997 		1.000 7 66991136 splice donor variant C/G;T snv 4.0E-06
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		0.700 0
dbSNP: rs113993998
rs113993998 		1.000 7 66988472 stop gained G/A snv 8.0E-06
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		0.700 0