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: rs75495843
rs75495843
PLCD1
1 1.000 0.040 3 38009720 missense variant G/A snv 2.5E-02 2.2E-02 0.010 1.000 1 2019 2019
dbSNP: rs9857730
rs9857730
PLCD1
1 1.000 0.040 3 38010450 synonymous variant T/C snv 0.21 0.28 0.010 1.000 1 2019 2019