rs120074160, SBDS

N. diseases: 7
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.
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.925 7 66994286 stop gained T/A snv 1.7E-04 1.0E-03 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.925 7 66994286 stop gained T/A snv 1.7E-04 1.0E-03 0.700 0
SHWACHMAN-DIAMOND SYNDROME 1
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
14 0.925 7 66994286 stop gained T/A snv 1.7E-04 1.0E-03 0.700 0
Splenomegaly
CUI: C0038002
Disease: Splenomegaly
19 0.925 7 66994286 stop gained T/A snv 1.7E-04 1.0E-03 0.700 0
Sunken eyes
CUI: C0423224
Disease: Sunken eyes
54 0.925 7 66994286 stop gained T/A snv 1.7E-04 1.0E-03 0.700 0
Tooth absent
CUI: C0457756
Disease: Tooth absent
6 0.925 7 66994286 stop gained T/A snv 1.7E-04 1.0E-03 0.700 0
Shwachman syndrome
CUI: C0272170
Disease: Shwachman syndrome
13 0.925 7 66994286 stop gained T/A snv 1.7E-04 1.0E-03 0.010 1.000 1 2005 2005