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: rs387907113
rs387907113
1 1.000 0.080 3 46993986 missense variant T/C snv 0.800 1.000 3 2011 2011
dbSNP: rs387907114
rs387907114
1 1.000 0.080 3 46995743 missense variant A/T snv 0.800 1.000 3 2011 2011
dbSNP: rs387907115
rs387907115
1 1.000 0.080 3 47004976 missense variant C/T snv 0.800 1.000 3 2011 2011
dbSNP: rs1357067113
rs1357067113
1 1.000 0.080 3 47005833 missense variant C/T snv 8.0E-06 1.4E-05 0.700 1.000 3 2011 2011
dbSNP: rs749896920
rs749896920
1 1.000 0.080 3 47005950 missense variant C/T snv 4.0E-06 1.4E-05 0.700 1.000 3 2011 2011
dbSNP: rs1341020147
rs1341020147
1 1.000 0.080 3 47002994 missense variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs1553659758
rs1553659758
1 1.000 0.080 3 46995528 stop gained G/A snv 0.700 0
dbSNP: rs1553663498
rs1553663498
1 1.000 0.080 3 47000180 stop gained G/T snv 0.700 0
dbSNP: rs372277612
rs372277612
1 1.000 0.080 3 46991644 stop gained C/G snv 4.2E-06 0.700 0
dbSNP: rs387907112
rs387907112
1 1.000 0.080 3 46997310 stop gained C/T snv 0.700 0
dbSNP: rs750160418
rs750160418
1 1.000 0.080 3 47003012 missense variant C/T snv 1.2E-05 0.700 0
dbSNP: rs794726682
rs794726682
1 1.000 0.080 3 46995558 stop gained G/A snv 0.700 0
dbSNP: rs794726683
rs794726683
1 1.000 0.080 3 47002750 frameshift variant -/G delins 0.700 0
dbSNP: rs104894809
rs104894809
9 0.790 0.120 X 48792371 missense variant G/A snv 9.5E-06 0.010 1.000 1 2007 2007