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: rs863225094
rs863225094
PPP2R1A
0.827 0.160 19 52213076 missense variant G/A snv
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.700 0