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: rs104895506
rs104895506
1 1.000 19 54938096 missense variant G/A;T snv 2.7E-04; 4.0E-06 0.800 1.000 8 2006 2014
dbSNP: rs104895502
rs104895502
1 1.000 19 54938095 missense variant C/A;G;T snv 4.8E-05; 8.0E-06 0.800 0
dbSNP: rs104895503
rs104895503
1 1.000 19 54930571 missense variant T/C snv 1.4E-04 4.7E-04 0.800 0
dbSNP: rs104895548
rs104895548
1 1.000 19 54939626 missense variant A/C snv 3.5E-05 0.800 0
dbSNP: rs104895549
rs104895549
1 1.000 19 54938222 missense variant G/A snv 0.800 0
dbSNP: rs104895512
rs104895512
1 1.000 19 54936313 missense variant G/C snv 5.3E-04 9.1E-05 0.700 1.000 3 2008 2013
dbSNP: rs104895504
rs104895504
1 1.000 19 54940930 splice donor variant C/T snv 0.700 0
dbSNP: rs104895505
rs104895505
1 1.000 19 54934488 splice donor variant C/T snv 5.2E-05 7.0E-05 0.700 0
dbSNP: rs104895525
rs104895525
1 1.000 19 54936400 missense variant G/A snv 6.0E-05 2.1E-05 0.700 0
dbSNP: rs104895530
rs104895530
1 1.000 19 54939525 stop gained G/A snv 3.6E-05 7.0E-06 0.700 0
dbSNP: rs104895550
rs104895550
1 1.000 19 54936415 missense variant G/C snv 4.8E-05 1.1E-04 0.700 0
dbSNP: rs104895552
rs104895552
1 1.000 19 54936279 missense variant C/T snv 0.700 0
dbSNP: rs104895553
rs104895553
1 1.000 19 54940945 frameshift variant -/C delins 1.0E-04 2.8E-05 0.700 0
dbSNP: rs104895554
rs104895554
1 1.000 19 54938143 frameshift variant A/- del 0.700 0