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: rs1557211209
rs1557211209
LAGE3 ; PLXNA3
1.000 X 154477966 missense variant A/G snv
CUI: C4538784
Disease: GALLOWAY-MOWAT SYNDROME 2, X-LINKED
GALLOWAY-MOWAT SYNDROME 2, X-LINKED 		0.800 0
dbSNP: rs202070666
rs202070666
PLXNA3
X 154460239 missense variant G/A snv 2.2E-04 6.5E-04
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs782515431
rs782515431
PLXNA3
X 154464026 missense variant G/C snv 1.1E-05 3.8E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0