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: rs17522122
rs17522122
5 0.925 0.040 14 32833676 3 prime UTR variant G/T snv 0.41 0.700 1.000 4 2015 2019
dbSNP: rs1051695
rs1051695
1 14 32823916 missense variant A/G snv 0.59 0.64 0.700 1.000 1 2018 2018
dbSNP: rs12895330
rs12895330
1 14 32836137 3 prime UTR variant G/C snv 0.40 0.700 1.000 1 2017 2017
dbSNP: rs2143975
rs2143975
1 14 32828192 intron variant C/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs2239647
rs2239647
7 0.851 0.080 14 32823537 synonymous variant A/C snv 0.60 0.65 0.700 1.000 1 2019 2019
dbSNP: rs2300835
rs2300835
3 14 32738316 intron variant C/A snv 0.16 0.700 1.000 1 2012 2012