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: rs12150660
rs12150660
5 1.000 0.040 17 7618597 intron variant G/T snv 0.17 0.800 1.000 1 2011 2011
dbSNP: rs6258
rs6258
5 1.000 0.040 17 7631360 missense variant C/A;T snv 5.6E-05; 4.5E-03 0.800 1.000 1 2011 2011
dbSNP: rs858516
rs858516
2 17 7633780 downstream gene variant C/G;T snv 0.700 1.000 1 2019 2019