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: rs10491279
rs10491279
3 0.882 0.080 5 132862408 synonymous variant C/T snv 0.14 0.17 0.010 1.000 1 2010 2010
dbSNP: rs76349024
rs76349024
2 0.925 0.080 5 132862518 missense variant G/A snv 3.4E-04 1.7E-04 0.010 1.000 1 2013 2013
dbSNP: rs6165
rs6165
14 0.724 0.160 2 48963902 missense variant C/G;T snv 4.0E-06; 0.55 0.010 1.000 1 2018 2018
dbSNP: rs75821853
rs75821853
1 1.000 0.080 17 7675397 5 prime UTR variant T/C snv 0.18 0.010 1.000 1 2020 2020