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: rs737337
rs737337
6 0.925 0.040 19 11236817 synonymous variant T/C snv 0.15 0.20 0.800 1.000 6 2010 2019
dbSNP: rs2278426
rs2278426
11 1.000 0.080 19 11239812 missense variant C/T snv 0.11 0.11 0.800 1.000 3 2013 2019
dbSNP: rs12979813
rs12979813
4 19 11232027 intron variant A/G snv 0.30 0.800 1.000 2 2013 2019
dbSNP: rs145464906
rs145464906
2 1.000 0.080 19 11240198 stop gained C/G;T snv 6.3E-04 0.700 1.000 1 2014 2014
dbSNP: rs17766692
rs17766692
1 19 11231923 intron variant C/T snv 0.13 0.700 1.000 1 2019 2019
dbSNP: rs1865063
rs1865063
1 19 11230353 intron variant C/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs3760782
rs3760782
1 19 11235874 intron variant C/A;G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs4804155
rs4804155
3 19 11223619 intron variant C/G snv 0.18 0.700 1.000 1 2019 2019