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: rs397514513
rs397514513
4 0.882 0.080 4 107945426 missense variant A/T snv 0.800 1.000 1 2012 2012
dbSNP: rs397514514
rs397514514
1 1.000 4 107947388 missense variant A/G snv 0.800 1.000 1 2012 2012
dbSNP: rs397514515
rs397514515
1 1.000 4 107945263 missense variant T/C snv 0.800 1.000 1 2012 2012
dbSNP: rs141431913
rs141431913
1 1.000 4 107950250 missense variant C/T snv 8.4E-06 3.5E-05 0.700 1.000 1 2012 2012
dbSNP: rs767024102
rs767024102
1 1.000 4 107947458 frameshift variant GA/- delins 1.2E-05 3.5E-05 0.700 1.000 1 2012 2012
dbSNP: rs1553937522
rs1553937522
1 1.000 4 107945422 stop gained C/T snv 0.700 0
dbSNP: rs761575210
rs761575210
1 1.000 4 107932095 missense variant C/A;G;T snv 9.2E-06; 4.6E-06 0.700 0
dbSNP: rs772400670
rs772400670
3 0.925 0.080 4 107947417 stop gained C/A;G;T snv 8.0E-06; 1.2E-05; 1.2E-05 0.700 0