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: rs1565798439
rs1565798439
ZFC3H1
12 71610513 missense variant A/G snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs767539150
rs767539150
ZFC3H1
12 71656953 missense variant C/T snv 1.8E-04 1.7E-04
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0