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: rs1456887132
rs1456887132
PHF20
20 35869519 missense variant C/T snv 4.0E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs771829423
rs771829423
PHF20
20 35938989 missense variant G/A snv 1.2E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0