SBDS, SBDS ribosome maturation factor, 51119

N. diseases: 105; N. variants: 17
Disease: Shwachman syndrome ×
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: 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: 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: rs113993990
rs113993990 		1.000 7 66995298 frameshift variant C/- delins
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		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
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