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: rs1566615893
rs1566615893
RNF31
14 24155442 missense variant A/G snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs377035972
rs377035972
RNF31
14 24155679 missense variant G/A snv 5.6E-05 9.8E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0