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: rs1129647
rs1129647
3 0.882 0.240 5 161854239 synonymous variant T/C snv 0.26 0.24 0.010 1.000 1 2016 2016
dbSNP: rs1319782
rs1319782
2 0.925 0.200 1 110668911 downstream gene variant C/T snv 0.67 0.010 1.000 1 2011 2011
dbSNP: rs2284932
rs2284932
2 0.925 0.200 2 207147785 intron variant G/A snv 0.33 0.010 < 0.001 1 2015 2015
dbSNP: rs2290733
rs2290733
2 0.925 0.200 5 161899351 3 prime UTR variant T/C snv 1.3E-02 0.010 1.000 1 2016 2016
dbSNP: rs2640480
rs2640480
2 0.925 0.200 1 110670626 downstream gene variant C/A;G snv 0.010 1.000 1 2011 2011
dbSNP: rs2840381
rs2840381
2 0.925 0.200 1 110675201 upstream gene variant G/A snv 0.73 0.010 1.000 1 2011 2011
dbSNP: rs7045953
rs7045953
2 0.925 0.200 9 117723517 3 prime UTR variant A/G snv 0.19 0.010 1.000 1 2009 2009
dbSNP: rs9371942
rs9371942
4 0.882 0.200 6 155913388 intron variant A/G snv 0.11 0.010 < 0.001 1 2015 2015