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: rs1042713
rs1042713
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.060 0.833 6 2010 2018
dbSNP: rs1042714
rs1042714
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.040 1.000 4 2012 2019
dbSNP: rs1800888
rs1800888
23 0.695 0.400 5 148827322 missense variant C/T snv 9.1E-03 9.1E-03 0.030 1.000 3 2012 2016
dbSNP: rs1042711
rs1042711
5 0.827 0.120 5 148826785 5 prime UTR variant C/A;G;T snv 4.2E-06; 0.68 0.010 1.000 1 2017 2017
dbSNP: rs773717255
rs773717255
2 0.925 0.040 5 148827469 missense variant T/C snv 3.2E-05 7.0E-05 0.010 1.000 1 2010 2010