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: rs144709443
rs144709443
UBR4
1 19155051 missense variant C/T snv 1.2E-05 1.4E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs747867083
rs747867083
UBR4
1 19119624 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs748323629
rs748323629
UBR4
1 19151825 missense variant T/C snv 8.0E-06 2.8E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs761960636
rs761960636
UBR4
1 19094058 missense variant G/T snv 3.2E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs776593168
rs776593168
UBR4
1 19167086 missense variant G/A;C snv 1.2E-05; 1.2E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0