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: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 1.000 1 2000 2000
dbSNP: rs41494349
rs41494349
LRP5
4 0.882 0.080 11 68348021 missense variant A/G snv 1.9E-02 8.2E-03 0.010 1.000 1 2007 2007