Source: BEFREE ×
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: rs2279115
rs2279115
BCL2
18 0.724 0.320 18 63319604 5 prime UTR variant G/A;T snv 0.020 1.000 2 2015 2017
dbSNP: rs4645878
rs4645878
BAX
5 0.882 0.120 19 48954681 upstream gene variant A/G snv 0.89 0.020 1.000 2 2015 2017
dbSNP: rs1635532
rs1635532
COL2A1
2 1.000 0.040 12 47999661 intron variant C/T snv 0.65 0.010 1.000 1 2016 2016
dbSNP: rs1800449
rs1800449
LOX
33 0.641 0.400 5 122077513 missense variant C/A;T snv 4.0E-06; 0.17 0.010 1.000 1 2013 2013
dbSNP: rs1800471
rs1800471
TGFB1
48 0.597 0.840 19 41352971 missense variant C/G;T snv 5.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs1800871
rs1800871
IL10 ; IL19
107 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.010 1.000 1 2019 2019