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: rs4733781
rs4733781
1 1.000 0.040 8 130284521 intron variant A/C snv 0.29 0.740 1.000 4 2015 2019
dbSNP: rs10956514
rs10956514
1 1.000 0.040 8 130240512 intron variant A/G snv 0.37 0.040 0.250 4 2015 2018
dbSNP: rs1017281
rs1017281
1 1.000 0.040 8 130234967 intron variant G/A snv 0.37 0.010 1.000 1 2018 2018
dbSNP: rs11774633
rs11774633
1 1.000 0.040 8 130177997 intron variant C/T snv 0.61 0.010 < 0.001 1 2016 2016
dbSNP: rs4236749
rs4236749
1 1.000 0.040 8 130052907 3 prime UTR variant C/T snv 0.16 0.010 1.000 1 2016 2016