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: rs1800625
rs1800625
AGER ; PBX2
39 0.641 0.680 6 32184665 upstream gene variant A/G snv 0.15 0.010 1.000 1 2012 2012
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2014 2014
dbSNP: rs2227956
rs2227956
HSPA1L
12 0.752 0.400 6 31810495 missense variant G/A;C;T snv 0.87 0.010 1.000 1 2014 2014
dbSNP: rs2232618
rs2232618
LBP
5 0.851 0.160 20 38373117 missense variant T/C snv 9.2E-02 0.12 0.010 1.000 1 2014 2014
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs5743507
rs5743507
BPI
2 1.000 20 38310650 splice region variant G/C snv 9.4E-02 8.6E-02 0.010 1.000 1 2014 2014