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: rs1052717
rs1052717
SREBF2
3 0.925 0.080 22 41885425 intron variant A/G snv 0.62 0.010 1.000 1 2008 2008
dbSNP: rs121912891
rs121912891
COL2A1
5 0.882 0.080 12 47976052 missense variant C/T snv 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs2267439
rs2267439
SREBF2
3 1.000 0.080 22 41841765 intron variant C/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs2267443
rs2267443
SREBF2
5 0.882 0.120 22 41891450 intron variant A/G snv 0.67 0.010 1.000 1 2008 2008
dbSNP: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.010 1.000 1 2006 2006