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: rs104893611
rs104893611
CFC1
1 1.000 2 130597896 missense variant G/A snv 0.800 1.000 2 2000 2002
dbSNP: rs746231039
rs746231039
CFC1
1 1.000 2 130593027 frameshift variant G/- del 8.1E-04 0.700 0
dbSNP: rs863223280
rs863223280
CFC1
1 1.000 2 130597849 coding sequence variant -/ACCCCTGTGCCCACCTGCGC delins 0.700 0
dbSNP: rs1800888
rs1800888
ADRB2
23 0.695 0.400 5 148827322 missense variant C/T snv 9.1E-03 9.1E-03 0.010 1.000 1 2006 2006
dbSNP: rs5743708
rs5743708
TLR2
98 0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 0.010 1.000 1 2016 2016