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: rs734312
rs734312
10 0.790 0.240 4 6301627 missense variant G/A snv 0.55 0.42 0.030 0.667 3 2005 2015
dbSNP: rs1801206
rs1801206
1 4 6300980 stop gained C/G;T snv 0.63 0.010 1.000 1 2005 2005
dbSNP: rs1801213
rs1801213
1 4 6291969 synonymous variant C/G snv 0.72 0.68 0.010 1.000 1 2005 2005
dbSNP: rs55814513
rs55814513
2 1.000 0.040 4 6301470 missense variant G/A;T snv 4.0E-03 0.010 1.000 1 1999 1999