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: rs1054003194
rs1054003194
2 2 47800892 frameshift variant GGG/-;GG;GGGG delins 0.700 0
dbSNP: rs1057517541
rs1057517541
3 0.925 0.160 3 37025817 stop gained C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057517551
rs1057517551
3 1.000 0.160 2 47798890 frameshift variant -/T delins 0.700 0
dbSNP: rs1057517763
rs1057517763
2 2 47804920 stop gained T/A snv 0.700 0
dbSNP: rs1057517764
rs1057517764
3 1.000 0.160 2 47805628 frameshift variant -/T delins 7.0E-06 0.700 1.000 2 2014 2016
dbSNP: rs1057517801
rs1057517801
2 7 5987022 frameshift variant T/- delins 0.700 0
dbSNP: rs1057524433
rs1057524433
1 7 5982858 stop gained G/A snv 0.700 0
dbSNP: rs1060500687
rs1060500687
1 3 37047639 frameshift variant AA/A;AAA;G delins 0.700 0
dbSNP: rs1060500688
rs1060500688
1 3 37001014 frameshift variant G/- delins 0.700 0
dbSNP: rs1060500689
rs1060500689
1 3 37007000 stop gained C/G;T snv 4.0E-06 0.700 0
dbSNP: rs1060500692
rs1060500692
1 3 37025668 frameshift variant GAGATGG/- delins 0.700 0
dbSNP: rs1060500698
rs1060500698
1 3 37050639 frameshift variant T/- delins 0.700 1.000 4 2003 2012
dbSNP: rs1060500699
rs1060500699
2 3 37025702 frameshift variant -/T delins 0.700 1.000 3 2015 2017
dbSNP: rs1060500703
rs1060500703
1 3 37025639 frameshift variant T/- delins 0.700 0
dbSNP: rs1060500706
rs1060500706
1 3 37050517 frameshift variant G/- delins 0.700 0
dbSNP: rs1060500707
rs1060500707
1 3 37025644 stop gained -/A delins 0.700 0
dbSNP: rs1060501989
rs1060501989
1 2 47410115 stop gained C/T snv 0.700 0
dbSNP: rs1060501991
rs1060501991
2 1.000 0.160 2 47480695 splice acceptor variant G/A;C snv 0.700 1.000 2 2005 2014
dbSNP: rs1060501993
rs1060501993
1 2 47403404 splice donor variant T/C snv 0.700 0
dbSNP: rs1060501994
rs1060501994
1 2 47429776 stop gained G/A;C;T snv 0.700 0
dbSNP: rs1060502000
rs1060502000
1 2 47403278 frameshift variant GCCG/- del 0.700 0
dbSNP: rs1060502001
rs1060502001
1 2 47403276 stop gained A/T snv 0.700 0
dbSNP: rs1060502023
rs1060502023
2 2 47463156 splice donor variant T/C snv 0.700 0
dbSNP: rs1060502027
rs1060502027
1 2 47463048 frameshift variant C/- delins 0.700 0
dbSNP: rs1060502029
rs1060502029
1 2 47463114 frameshift variant GAAG/AAA delins 0.700 0