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: rs6821591
rs6821591
2 1.000 0.040 4 23795377 3 prime UTR variant C/T snv 0.53 0.020 1.000 2 2011 2018
dbSNP: rs8192678
rs8192678
28 0.667 0.440 4 23814039 missense variant C/T snv 0.31 0.26 0.020 0.500 2 2011 2018
dbSNP: rs2970848
rs2970848
1 1.000 0.040 4 23815404 intron variant A/C;G snv 0.39 0.010 1.000 1 2011 2011