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: rs267606877
rs267606877
1 1.000 0.080 14 104703343 missense variant T/C snv 0.800 1.000 6 2010 2014
dbSNP: rs267606878
rs267606878
1 1.000 0.080 14 104703439 missense variant C/T snv 0.800 1.000 6 2010 2014
dbSNP: rs267606879
rs267606879
2 0.925 0.080 14 104703428 missense variant G/A snv 7.0E-06 0.800 1.000 6 2010 2014
dbSNP: rs267606880
rs267606880
1 1.000 0.080 14 104701490 missense variant T/C snv 0.800 1.000 6 2010 2014
dbSNP: rs267607183
rs267607183
3 0.882 0.080 14 104703440 missense variant G/A snv 0.800 1.000 6 2010 2014
dbSNP: rs201383094
rs201383094
1 1.000 0.080 14 104701402 missense variant G/A snv 3.6E-04 3.3E-04 0.700 1.000 6 2010 2014
dbSNP: rs1555373599
rs1555373599
2 0.925 0.080 14 104703195 inframe deletion GCCCTGGAC/- delins 0.700 1.000 1 2011 2011
dbSNP: rs1566777560
rs1566777560
1 1.000 0.080 14 104701582 missense variant G/A snv 0.700 0
dbSNP: rs1566778651
rs1566778651
1 1.000 0.080 14 104703317 missense variant G/A;C snv 0.700 0
dbSNP: rs1566778676
rs1566778676
1 1.000 0.080 14 104703337 missense variant G/A snv 0.700 0
dbSNP: rs530391015
rs530391015
5 0.882 0.080 14 104703445 stop gained G/A;C;T snv 4.0E-06 0.700 0
dbSNP: rs912928648
rs912928648
1 1.000 0.080 14 104703427 missense variant C/T snv 4.0E-06 0.700 0