Source: ALL
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: rs1561904557
rs1561904557
9 0.851 0.160 5 150056050 missense variant GGAT/TGCC mnv 0.700 0
dbSNP: rs370717845
rs370717845
33 0.763 0.320 8 43161462 missense variant G/A snv 0.700 0
dbSNP: rs17746510
rs17746510
5 0.882 0.080 2 173019562 intron variant T/C;G snv 0.010 < 0.001 1 2016 2016
dbSNP: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.010 1.000 1 2013 2013
dbSNP: rs2075572
rs2075572
2 1.000 0.040 6 154090869 intron variant G/C snv 0.54 0.010 1.000 1 2013 2013
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2013 2013
dbSNP: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.010 1.000 1 2017 2017
dbSNP: rs63751273
rs63751273
42 0.645 0.280 17 46010389 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs74315401
rs74315401
32 0.683 0.320 20 4699525 missense variant C/T snv 0.010 1.000 1 2004 2004