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: rs5030737
rs5030737
MBL2
11 0.752 0.360 10 52771482 missense variant G/A snv 5.6E-02 5.0E-02 0.700 1.000 4 1994 2012
dbSNP: rs1800450
rs1800450
MBL2
26 0.662 0.640 10 52771475 missense variant C/T snv 0.14 0.11 0.700 0
dbSNP: rs72550870
rs72550870
MASP2
8 0.776 0.360 1 11046609 missense variant T/C snv 2.1E-02 2.2E-02 0.010 1.000 1 2008 2008