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 0.010 1.000 1 2017 2017