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: rs11652075
rs11652075
3 0.882 0.040 17 80205094 missense variant C/T snv 0.41 0.40 0.840 1.000 5 2012 2016
dbSNP: rs281875215
rs281875215
6 0.807 0.160 17 80182790 missense variant G/A snv 8.0E-06 0.030 1.000 3 2013 2019
dbSNP: rs281875214
rs281875214
7 0.790 0.160 17 80183976 missense variant A/C snv 0.020 1.000 2 2016 2019