Gene: PPP2R1A ×
Source: CLINVAR ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs786205228
rs786205228
PPP2R1A
3 0.827 0.080 19 52212718 missense variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519947
rs1057519947
PPP2R1A
9 0.790 0.160 19 52212730 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519946
rs1057519946
PPP2R1A
17 0.732 0.280 19 52212729 missense variant C/G;T snv 0.700 1.000 1 2016 2016