SBDS, SBDS ribosome maturation factor, 51119

N. diseases: 105; N. variants: 17
Disease: SHWACHMAN-DIAMOND SYNDROME 1 ×
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: 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: 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: 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: 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: 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