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: rs122454130
rs122454130
RPS6KA3
1.000 0.080 X 20193514 missense variant A/T snv
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		0.800 1.000 6 1996 2004