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: rs1181555052
rs1181555052
1 1.000 0.080 3 184373456 missense variant G/A snv 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1466463978
rs1466463978
1 1.000 0.080 3 184372749 missense variant A/G snv 7.0E-06 0.010 1.000 1 2017 2017