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: rs786204583
rs786204583
2 0.925 0.080 1 179559711 missense variant G/A snv 0.800 1.000 16 2000 2015
dbSNP: rs1214047676
rs1214047676
1 1.000 0.080 1 179551304 missense variant G/A snv 0.700 1.000 14 2000 2015
dbSNP: rs12240233
rs12240233
1 1.000 0.080 1 179561315 missense variant A/G snv 0.700 1.000 14 2000 2015
dbSNP: rs1345260812
rs1345260812
1 1.000 0.080 1 179561324 missense variant A/C snv 7.0E-06 0.700 1.000 14 2000 2015
dbSNP: rs74315345
rs74315345
2 0.925 0.080 1 179575591 missense variant C/A;G;T snv 0.800 1.000 14 2000 2015
dbSNP: rs74315346
rs74315346
2 0.925 0.080 1 179559734 missense variant T/A;C snv 0.800 1.000 14 2000 2015
dbSNP: rs528833893
rs528833893
2 0.925 0.080 1 179559746 frameshift variant A/-;AA delins 0.700 1.000 7 2004 2017
dbSNP: rs1291398331
rs1291398331
2 0.925 0.080 1 179557231 splice acceptor variant C/A snv 7.0E-06 0.700 1.000 3 2002 2006
dbSNP: rs1553312833
rs1553312833
2 0.925 0.080 1 179552602 splice donor variant C/T snv 0.700 1.000 2 2013 2014
dbSNP: rs786204708
rs786204708
2 0.925 0.080 1 179561287 splice donor variant A/T snv 0.700 1.000 2 2004 2014
dbSNP: rs967339926
rs967339926
2 0.925 0.080 1 179552601 splice donor variant A/T snv 1.4E-05 0.700 1.000 2 2015 2016
dbSNP: rs1057516747
rs1057516747
2 0.925 0.080 1 179575722 frameshift variant -/AGCCC delins 7.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs1272948499
rs1272948499
3 0.925 0.080 1 179575709 frameshift variant C/- delins 1.4E-05 0.700 1.000 1 2017 2017
dbSNP: rs1553316575
rs1553316575
2 0.925 0.080 1 179575616 frameshift variant C/- del 0.700 1.000 1 2014 2014
dbSNP: rs3842689
rs3842689
2 0.925 0.080 3 119782551 intron variant GAGAAG/-;GAGAAGGAGAAG delins 0.35 0.010 1.000 1 2016 2016
dbSNP: rs5742909
rs5742909
40 0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02 0.010 1.000 1 2019 2019
dbSNP: rs1031744496
rs1031744496
2 0.925 0.080 1 179551453 splice acceptor variant T/G snv 0.700 0
dbSNP: rs1057516395
rs1057516395
2 0.925 0.080 1 179564699 frameshift variant G/- del 0.700 0
dbSNP: rs1057516523
rs1057516523
2 0.925 0.080 1 179552682 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1057516680
rs1057516680
2 0.925 0.080 1 179575862 start lost C/A;T snv 0.700 0
dbSNP: rs1057516880
rs1057516880
2 0.925 0.080 1 179575769 frameshift variant -/TA ins 0.700 0
dbSNP: rs1057517164
rs1057517164
2 0.925 0.080 1 179552617 stop gained G/A snv 0.700 0
dbSNP: rs1060499703
rs1060499703
2 0.925 0.080 1 179559762 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1167223941
rs1167223941
2 0.925 0.080 1 179575699 stop gained C/A;T snv 0.700 0
dbSNP: rs1212702104
rs1212702104
2 0.925 0.080 1 179557025 splice donor variant A/G snv 0.700 0