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: rs2228246
rs2228246
PLCG1
2 0.925 0.120 20 41163423 missense variant A/G snv 0.14 0.14 0.010 1.000 1 2015 2015