Source: ALL
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: rs1114167429
rs1114167429
PPP1CB
1 1.000 2 28776964 missense variant G/C snv 0.800 1.000 5 2016 2019
dbSNP: rs886037952
rs886037952
PPP1CB
2 0.925 0.240 2 28776944 missense variant C/G snv 0.800 1.000 5 2016 2019
dbSNP: rs886037954
rs886037954
PPP1CB ; SPDYA
1 1.000 2 28783934 missense variant A/C;T snv 0.800 1.000 5 2016 2019
dbSNP: rs886037955
rs886037955
PPP1CB ; SPDYA
1 1.000 2 28793938 missense variant G/A snv 0.800 1.000 5 2016 2019
dbSNP: rs886037953
rs886037953
PPP1CB ; SPDYA
1 1.000 2 28793872 missense variant G/T snv 0.700 1.000 5 2016 2019