Source: BEFREE

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: rs122454131
rs122454131
RPS6KA3
1.000 0.080 X 20186338 missense variant A/G snv
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		0.810 1.000 1 1996 2004
dbSNP: rs869320705
rs869320705
RPS6KA3
0.925 0.080 X 20177017 stop gained G/A snv
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		0.710 1.000 1 2005 2005