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: rs762178
rs762178
2 0.925 0.040 21 33027093 synonymous variant A/G snv 0.51 0.53 0.030 1.000 3 2007 2019
dbSNP: rs9653711
rs9653711
4 0.851 0.120 21 33029641 intron variant G/A;C snv 0.030 1.000 3 2007 2019
dbSNP: rs1059004
rs1059004
4 0.925 0.040 21 33028155 3 prime UTR variant C/A snv 0.41 0.020 1.000 2 2007 2015
dbSNP: rs13046814
rs13046814
1 1.000 0.040 21 33029069 3 prime UTR variant T/G snv 0.26 0.010 1.000 1 2007 2007
dbSNP: rs6517137
rs6517137
3 0.882 0.120 21 33028471 3 prime UTR variant T/C snv 0.11 0.010 1.000 1 2007 2007