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: rs2293054
rs2293054
2 0.925 0.080 12 117263909 synonymous variant A/G;T snv 0.69; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs375081888
rs375081888
2 0.925 0.120 12 117331048 missense variant C/T snv 2.4E-05 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs754831760
rs754831760
1 1.000 0.040 12 117286158 synonymous variant G/A snv 4.0E-05 4.9E-05 0.010 < 0.001 1 2016 2016