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
0.923 0.179 7 66994286 stop gained T/A snp 1.7E-04 9.9E-04
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
0.700 1 2015 2015
dbSNP: rs120074160
rs120074160
0.923 0.179 7 66994286 stop gained T/A snp 1.7E-04 9.9E-04
CUI: C0424688
Disease: Small head
Small head
0.700 1 2015 2015
dbSNP: rs120074160
rs120074160
0.923 0.179 7 66994286 stop gained T/A snp 1.7E-04 9.9E-04
CUI: C0014306
Disease: Enophthalmos
Enophthalmos
0.700 1 2015 2015
dbSNP: rs120074160
rs120074160
0.923 0.179 7 66994286 stop gained T/A snp 1.7E-04 9.9E-04
CUI: C0349588
Disease: Short stature
Short stature
0.700 1 2015 2015
dbSNP: rs120074160
rs120074160
0.923 0.179 7 66994286 stop gained T/A snp 1.7E-04 9.9E-04
CUI: C0457756
Disease: Tooth absent
Tooth absent
0.700 1 2015 2015