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: rs226794
rs226794
3 0.882 0.160 21 26930036 missense variant A/G snv 0.83 0.89 0.030 0.667 3 2008 2019
dbSNP: rs2830585
rs2830585
2 1.000 0.040 21 26932893 missense variant C/T snv 0.12 0.12 0.020 0.500 2 2016 2019