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: rs1057524820
rs1057524820
33 0.776 0.280 12 51765746 missense variant G/A;T snv 0.700 0
dbSNP: rs876657399
rs876657399
3 0.925 0.160 12 51768915 missense variant C/G snv 0.700 0
dbSNP: rs1392120633
rs1392120633
2 1.000 0.040 12 51807223 missense variant C/T snv 4.0E-06 0.020 1.000 2 2019 2020
dbSNP: rs202151337
rs202151337
4 0.925 0.160 12 51806788 missense variant A/G snv 0.020 1.000 2 2015 2017
dbSNP: rs796053228
rs796053228
4 0.882 0.160 12 51807100 missense variant C/G;T snv 0.020 1.000 2 2019 2020
dbSNP: rs1064793923
rs1064793923
1 12 51699581 missense variant A/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs587776703
rs587776703
4 0.925 0.040 12 51806642 frameshift variant CT/- del 7.0E-06 0.010 1.000 1 2018 2018