Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs373730800
rs373730800
SBDS ; TYW1
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 0 2003 2014
dbSNP: rs113993993
rs113993993
SBDS
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: rs1555354198
rs1555354198
SRP54
1.000 14 35007369 inframe deletion ACA/- delins
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
SHWACHMAN-DIAMOND SYNDROME 1 		0.700 1.000 1 2017 2017
dbSNP: rs1555354200
rs1555354200
SRP54
1.000 14 35007370 missense variant A/G snv
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
SHWACHMAN-DIAMOND SYNDROME 1 		0.700 1.000 1 2017 2017
dbSNP: rs1555354750
rs1555354750
SRP54
1.000 14 35013386 missense variant G/A snv
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
SHWACHMAN-DIAMOND SYNDROME 1 		0.700 1.000 1 2017 2017
dbSNP: rs113993992
rs113993992
SBDS
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
SBDS
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
SBDS
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