Source: UNIPROT

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: rs121434612
rs121434612
PAK3
1.000 0.080 X 111142119 missense variant C/T snv
CUI: C0796237
Disease: Mental Retardation, X-Linked 30
Mental Retardation, X-Linked 30 		0.800 0
dbSNP: rs121434613
rs121434613
PAK3
0.882 0.240 X 111194402 missense variant C/A snv
CUI: C0796237
Disease: Mental Retardation, X-Linked 30
Mental Retardation, X-Linked 30 		0.800 0