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: rs886043627
rs886043627
1 1.000 0.240 12 49185575 missense variant C/T snv 0.700 0
dbSNP: rs863224938
rs863224938
1 1.000 0.240 12 49186333 missense variant C/G;T snv 0.700 0
dbSNP: rs797046073
rs797046073
1 1.000 0.240 12 49185396 missense variant C/G snv 0.700 0
dbSNP: rs797046072
rs797046072
1 1.000 0.240 12 49186416 missense variant T/C snv 0.700 0
dbSNP: rs797046071
rs797046071
1 1.000 0.240 12 49185261 missense variant C/T snv 0.700 0
dbSNP: rs797045005
rs797045005
4 0.851 0.320 12 49185140 missense variant A/G snv 0.700 1.000 1 2008 2008
dbSNP: rs753719501
rs753719501
1 1.000 0.240 12 49185142 stop gained G/A;T snv 1.2E-05 0.700 1.000 1 2016 2016
dbSNP: rs587784497
rs587784497
1 1.000 0.240 12 49185371 missense variant A/G snv 0.700 0
dbSNP: rs587784495
rs587784495
1 1.000 0.240 12 49185380 missense variant T/C snv 0.700 0
dbSNP: rs587784494
rs587784494
1 1.000 0.240 12 49185558 missense variant C/A;T snv 0.700 0
dbSNP: rs587784492
rs587784492
1 1.000 0.240 12 49185668 missense variant T/C snv 0.700 0
dbSNP: rs587784491
rs587784491
4 0.925 0.240 12 49186832 missense variant C/T snv 0.700 0
dbSNP: rs587784489
rs587784489
1 1.000 0.240 12 49185845 missense variant G/A snv 0.700 0
dbSNP: rs587784488
rs587784488
1 1.000 0.240 12 49185885 missense variant A/C;G snv 0.700 0
dbSNP: rs587784486
rs587784486
1 1.000 0.240 12 49186675 missense variant A/T snv 0.700 0
dbSNP: rs587784485
rs587784485
1 1.000 0.240 12 49186685 missense variant G/A snv 0.700 0
dbSNP: rs587784484
rs587784484
1 1.000 0.240 12 49185092 missense variant A/T snv 0.700 0
dbSNP: rs587784483
rs587784483
3 0.925 0.320 12 49185162 missense variant G/A;T snv 0.800 1.000 4 2007 2015
dbSNP: rs587784482
rs587784482
2 0.925 0.240 12 49185218 missense variant G/A;T snv 0.700 0
dbSNP: rs587784481
rs587784481
1 1.000 0.240 12 49185237 missense variant T/C snv 0.700 0
dbSNP: rs387906840
rs387906840
2 0.925 0.240 12 49186824 missense variant T/G snv 0.700 0
dbSNP: rs1565627727
rs1565627727
1 1.000 0.240 12 49186670 missense variant G/A snv 0.700 1.000 1 2014 2014
dbSNP: rs1565627707
rs1565627707
3 0.925 0.240 12 49186657 missense variant C/A snv 0.700 0
dbSNP: rs1565627513
rs1565627513
1 1.000 0.240 12 49186364 missense variant G/C snv 0.700 0
dbSNP: rs1565627072
rs1565627072
1 1.000 0.240 12 49185404 missense variant C/T snv 0.700 0