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: rs113993990
rs113993990
SBDS ; TYW1
1.000 7 66995298 frameshift variant C/- delins
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		0.700 0
dbSNP: rs373730800
rs373730800
SBDS ; TYW1
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
SBDS ; TYW1
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
SBDS ; TYW1
0.925 7 66995320 missense variant T/C;G snv 6.0E-05
CUI: C0239998
Disease: Recurrent infections
Recurrent infections 		0.700 0