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: rs1057519946
rs1057519946
PPP2R1A
0.732 0.280 19 52212729 missense variant C/G;T snv
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.700 0