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: rs2057482
rs2057482
21 0.701 0.440 14 61747130 3 prime UTR variant T/C snv 0.84 0.80 0.010 1.000 1 2019 2019
dbSNP: rs41508050
rs41508050
4 0.882 0.080 14 61738090 missense variant C/T snv 3.8E-03 4.0E-03 0.010 1.000 1 2019 2019