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: rs387907254
rs387907254
1 1.000 0.240 19 13025172 missense variant T/C snv 0.800 1.000 4 2010 2015
dbSNP: rs387907255
rs387907255
1 1.000 0.240 19 13025355 missense variant G/C snv 0.800 1.000 4 2010 2015
dbSNP: rs1568318932
rs1568318932
2 0.925 0.240 19 13075673 splice donor variant T/C snv 0.700 1.000 2 2010 2015
dbSNP: rs587779381
rs587779381
1 1.000 0.240 19 13073924 stop gained C/G snv 0.700 1.000 1 2014 2014
dbSNP: rs797045056
rs797045056
1 1.000 0.240 19 13025330 frameshift variant -/AGATC delins 0.700 1.000 1 2016 2016
dbSNP: rs1135401802
rs1135401802
1 1.000 0.240 19 13025066 frameshift variant G/- del 0.700 0
dbSNP: rs1555696597
rs1555696597
1 1.000 0.240 19 13025330 missense variant A/G snv 0.700 0
dbSNP: rs1555696611
rs1555696611
2 0.925 0.240 19 13025350 frameshift variant C/- delins 0.700 0
dbSNP: rs1555696641
rs1555696641
1 1.000 0.240 19 13025460 missense variant G/C snv 0.700 0
dbSNP: rs1568268397
rs1568268397
2 0.925 0.240 19 13025129 stop gained A/T snv 0.700 0
dbSNP: rs387907253
rs387907253
2 0.925 0.240 19 13073055 stop gained C/T snv 0.700 0