rs373730800, SBDS;TYW1

N. diseases: 4
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
SHWACHMAN-DIAMOND SYNDROME 1
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
14 0.925 7 66995320 missense variant T/C;G snv 6.0E-05 0.800 1.000 4 2003 2014
Abnormality of the skeletal system
CUI: C4021790
Disease: Abnormality of the skeletal system
18 0.925 7 66995320 missense variant T/C;G snv 6.0E-05 0.700 0
Recurrent infections
CUI: C0239998
Disease: Recurrent infections
14 0.925 7 66995320 missense variant T/C;G snv 6.0E-05 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.925 7 66995320 missense variant T/C;G snv 6.0E-05 0.700 0