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: rs2278426
rs2278426
11 1.000 0.080 19 11239812 missense variant C/T snv 0.11 0.11 0.030 1.000 3 2018 2019
dbSNP: rs145464906
rs145464906
2 1.000 0.080 19 11240198 stop gained C/G;T snv 6.3E-04 0.010 < 0.001 1 2016 2016
dbSNP: rs892066
rs892066
2 1.000 0.080 19 11239664 synonymous variant C/G snv 0.22 0.33 0.010 1.000 1 2019 2019