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: rs1060499735
rs1060499735
CPLX1 ; LOC105374339
2 1.000 4 786584 stop gained C/A snv 0.700 1.000 1 2015 2015
dbSNP: rs1553851860
rs1553851860
CPLX1 ; LOC105374339
1 1.000 4 786591 stop gained G/T snv 0.700 1.000 1 2017 2017
dbSNP: rs371709824
rs371709824
CPLX1 ; LOC105374339
1 1.000 4 786524 missense variant G/T snv 9.2E-05 9.1E-05 0.700 0