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: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs12597773
rs12597773
2 1.000 0.040 16 3714708 intron variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs1639150
rs1639150
3 0.925 0.120 16 3697203 intron variant C/T snv 0.49 0.010 1.000 1 2018 2018
dbSNP: rs2072379
rs2072379
3 0.925 0.120 16 3688886 intron variant C/T snv 0.75 0.010 1.000 1 2018 2018
dbSNP: rs3027898
rs3027898
11 0.752 0.360 X 154010439 downstream gene variant C/A snv 0.010 1.000 1 2013 2013
dbSNP: rs3751842
rs3751842
2 1.000 0.040 16 3664610 3 prime UTR variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs7804122
rs7804122
2 0.925 0.120 7 84005397 synonymous variant A/G snv 0.24 0.24 0.010 1.000 1 2019 2019