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: rs1568689930
rs1568689930
1 1.000 0.160 19 1206993 frameshift variant -/C delins 0.700 0
dbSNP: rs1568689994
rs1568689994
1 1.000 0.160 19 1207017 frameshift variant CT/- delins 0.700 0
dbSNP: rs121913324
rs121913324
3 1.000 0.160 19 1207022 stop gained C/T snv 0.700 0
dbSNP: rs1060499961
rs1060499961
1 1.000 0.160 19 1207041 frameshift variant C/- delins 0.700 0
dbSNP: rs1568690161
rs1568690161
1 1.000 0.160 19 1207064 frameshift variant -/T delins 0.700 0
dbSNP: rs1131690917
rs1131690917
2 1.000 0.160 19 1207066 frameshift variant GGG/-;G;GGGG delins 0.700 1.000 3 1999 2013
dbSNP: rs137854584
rs137854584
1 1.000 0.160 19 1207082 stop gained G/T snv 0.700 0
dbSNP: rs1555735001
rs1555735001
1 1.000 0.160 19 1207091 frameshift variant -/AC delins 0.700 0
dbSNP: rs1555735008
rs1555735008
1 1.000 0.160 19 1207093 frameshift variant C/- del 0.700 0
dbSNP: rs778376925
rs778376925
2 1.000 0.160 19 1207093 stop gained C/A;G;T snv 1.2E-05 0.700 0
dbSNP: rs397518441
rs397518441
1 1.000 0.160 19 1207109 frameshift variant -/T delins 0.700 0
dbSNP: rs1555735014
rs1555735014
1 1.000 0.160 19 1207112 frameshift variant C/- del 0.700 0
dbSNP: rs137853077
rs137853077
2 1.000 0.160 19 1207113 missense variant T/C snv 0.810 1.000 11 1998 2019
dbSNP: rs137853076
rs137853076
2 1.000 0.160 19 1207163 stop gained A/G;T snv 4.1E-06 0.700 1.000 4 1998 2007
dbSNP: rs1057520039
rs1057520039
4 0.882 0.200 19 1207169 stop gained C/G;T snv 0.700 1.000 2 1999 2016
dbSNP: rs1555735080
rs1555735080
1 1.000 0.160 19 1207203 splice donor variant GTAAGTA/- delins 0.700 1.000 2 2004 2005
dbSNP: rs1131690950
rs1131690950
2 1.000 0.160 19 1207204 splice donor variant G/A;C snv 0.700 0
dbSNP: rs1568690546
rs1568690546
1 1.000 0.160 19 1207205 splice donor variant TAA/- del 0.700 1.000 2 2004 2005
dbSNP: rs876658584
rs876658584
2 1.000 0.160 19 1218415 splice acceptor variant A/G snv 0.700 1.000 4 1999 2013
dbSNP: rs112675807
rs112675807
1 1.000 0.160 19 1218416 splice acceptor variant G/A;C;T snv 0.700 1.000 3 2000 2005
dbSNP: rs1057520040
rs1057520040
1 1.000 0.160 19 1218449 missense variant A/G snv 0.700 1.000 1 1999 1999
dbSNP: rs1555737480
rs1555737480
1 1.000 0.160 19 1218502 splice donor variant T/C snv 0.700 0
dbSNP: rs864622707
rs864622707
1 1.000 0.160 19 1219343 frameshift variant T/- del 0.700 0
dbSNP: rs587782424
rs587782424
2 1.000 0.160 19 1219346 frameshift variant TG/- delins 0.700 1.000 1 2010 2010
dbSNP: rs1060499958
rs1060499958
1 1.000 0.160 19 1219356 missense variant T/C snv 0.700 0