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: rs771019056
rs771019056
1 1.000 0.160 9 37428532 frameshift variant -/A delins 8.0E-06; 4.0E-06 1.4E-05 0.700 1.000 1 2015 2015
dbSNP: rs1057516823
rs1057516823
1 1.000 0.160 9 37432027 frameshift variant -/A delins 0.700 0
dbSNP: rs1057517238
rs1057517238
1 1.000 0.160 9 37425932 frameshift variant -/A delins 0.700 0
dbSNP: rs1554748574
rs1554748574
1 1.000 0.160 9 37432121 frameshift variant -/G delins 0.700 0
dbSNP: rs1554748534
rs1554748534
1 1.000 0.160 9 37432055 frameshift variant -/T delins 0.700 0
dbSNP: rs1554746962
rs1554746962
1 1.000 0.160 9 37426600 frameshift variant -/TACTTACCACCTGC delins 0.700 0
dbSNP: rs1057516299
rs1057516299
1 1.000 0.160 9 37426653 frameshift variant A/- delins 0.700 0
dbSNP: rs1057516831
rs1057516831
1 1.000 0.160 9 37436749 frameshift variant A/- del 0.700 0
dbSNP: rs1257080057
rs1257080057
1 1.000 0.160 9 37432006 splice acceptor variant A/- del 7.0E-06 0.700 0
dbSNP: rs180177311
rs180177311
1 1.000 0.160 9 37422795 frameshift variant A/- del 0.700 0
dbSNP: rs180177319
rs180177319
1 1.000 0.160 9 37424843 splice acceptor variant A/G snv 0.700 1.000 3 2003 2015
dbSNP: rs180177324
rs180177324
1 1.000 0.160 9 37436729 missense variant A/G snv 0.700 0
dbSNP: rs1554746094
rs1554746094
1 1.000 0.160 9 37422751 start lost A/G;T snv 0.700 0
dbSNP: rs180177309
rs180177309
1 1.000 0.160 9 37426653 splice region variant AAGT/- delins 2.8E-05 7.0E-06 0.700 1.000 1 2003 2003
dbSNP: rs1554746793
rs1554746793
1 1.000 0.160 9 37425920 splice acceptor variant AG/- del 0.700 0
dbSNP: rs796052081
rs796052081
1 1.000 0.160 9 37426534 splice acceptor variant AGT/- delins 0.700 0
dbSNP: rs1554747871
rs1554747871
1 1.000 0.160 9 37429733 frameshift variant C/- delins 0.700 0
dbSNP: rs796052082
rs796052082
1 1.000 0.160 9 37430605 frameshift variant C/- delins 0.700 0
dbSNP: rs119490108
rs119490108
2 0.925 0.160 9 37426545 stop gained C/T snv 1.4E-05 0.700 0
dbSNP: rs180177322
rs180177322
1 1.000 0.160 9 37436699 missense variant C/T snv 2.4E-05 1.4E-05 0.700 0
dbSNP: rs180177316
rs180177316
1 1.000 0.160 9 37430520 frameshift variant CT/- del 2.1E-05 0.700 1.000 3 2001 2005
dbSNP: rs1564300888
rs1564300888
1 1.000 0.160 9 37430527 frameshift variant CTGCCCAATCTGATTTCATCGTCGTGGCCTGCTCCTTAACACCTGCAACCGAGGG/- delins 0.700 0
dbSNP: rs80356708
rs80356708
3 0.882 0.160 9 37424862 frameshift variant G/- delins 0.700 1.000 5 1999 2008
dbSNP: rs1554747933
rs1554747933
1 1.000 0.160 9 37429836 splice donor variant G/- delins 0.700 0
dbSNP: rs1554748598
rs1554748598
1 1.000 0.160 9 37432136 frameshift variant G/- del 0.700 0