GHSR, growth hormone secretagogue receptor, 2693

N. diseases: 171; N. variants: 9
Disease: Dysmorphic features ×
Source: ALL
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: rs121917883
rs121917883 		0.851 0.160 3 172447803 missense variant G/A;T snv 2.8E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 4 2006 2016