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: rs120074160
rs120074160
0.925 7 66994286 stop gained T/A snv 1.7E-04 1.0E-03
CUI: C0423224
Disease: Sunken eyes
Sunken eyes
0.700 0
dbSNP: rs120074160
rs120074160
0.925 7 66994286 stop gained T/A snv 1.7E-04 1.0E-03
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
0.700 0
dbSNP: rs120074160
rs120074160
0.925 7 66994286 stop gained T/A snv 1.7E-04 1.0E-03
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs120074160
rs120074160
0.925 7 66994286 stop gained T/A snv 1.7E-04 1.0E-03
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
0.700 0
dbSNP: rs120074160
rs120074160
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: rs120074160
rs120074160
0.925 7 66994286 stop gained T/A snv 1.7E-04 1.0E-03
CUI: C0457756
Disease: Tooth absent
Tooth absent
0.700 0