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: rs20541
rs20541
52 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 0.800 1.000 1 2013 2013
dbSNP: rs1295686
rs1295686
7 0.882 0.160 5 132660151 intron variant T/A;C snv 0.68 0.700 1.000 1 2016 2016
dbSNP: rs3091307
rs3091307
6 0.925 0.160 5 132653444 intron variant A/G snv 0.34 0.700 1.000 1 2017 2017
dbSNP: rs848
rs848
8 0.807 0.240 5 132660808 3 prime UTR variant A/C snv 0.67 0.700 1.000 1 2017 2017