Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1558053119
rs1558053119
1 184717581 missense variant A/C snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs765435034
rs765435034
1 184694431 missense variant C/A snv 2.9E-05
CUI: C0349588
Disease: Short stature
Short stature
0.700 0