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: rs1798802
rs1798802
2 3 41220488 intron variant A/G snv 0.43 0.010 1.000 1 2017 2017
dbSNP: rs2293303
rs2293303
7 0.827 0.200 3 41239336 synonymous variant C/T snv 3.2E-02 1.2E-02 0.010 1.000 1 2017 2017
dbSNP: rs4135385
rs4135385
14 0.742 0.320 3 41237949 non coding transcript exon variant A/G snv 0.19 0.010 1.000 1 2017 2017