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: rs587779243
rs587779243
1 1.000 0.160 2 47800549 frameshift variant GATT/- delins 0.700 1.000 1 2010 2010
dbSNP: rs587779318
rs587779318
1 1.000 0.160 2 47798677 stop gained C/T snv 0.700 1.000 1 2012 2012
dbSNP: rs1064793600
rs1064793600
1 1.000 0.160 2 47799597 inframe deletion CTT/- delins 7.0E-06 0.700 0
dbSNP: rs1244531716
rs1244531716
1 1.000 0.160 2 47799422 missense variant T/A snv 4.0E-06 0.700 0
dbSNP: rs1251033858
rs1251033858
1 1.000 0.160 2 47799235 missense variant T/C;G snv 4.0E-06 0.700 0
dbSNP: rs1333555322
rs1333555322
1 1.000 0.160 2 47799976 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs1416452389
rs1416452389
1 1.000 0.160 2 47806590 stop gained C/G;T snv 4.0E-06 0.700 0
dbSNP: rs1553332772
rs1553332772
1 1.000 0.160 2 47805708 splice donor variant G/T snv 0.700 0
dbSNP: rs1553332996
rs1553332996
1 1.000 0.160 2 47806234 stop gained -/AATAGCAAATGCAGTTGTTAAAGAACTTG delins 0.700 0
dbSNP: rs1553333584
rs1553333584
1 1.000 0.160 2 47806566 stop gained -/CTAATCTCCCAGAGGAAGTTAT delins 0.700 0
dbSNP: rs1553333594
rs1553333594
1 1.000 0.160 2 47806567 frameshift variant -/T delins 0.700 0
dbSNP: rs1553333598
rs1553333598
1 1.000 0.160 2 47806571 frameshift variant -/CTCCCAGAGGAAGTTATTC delins 0.700 0
dbSNP: rs1553333635
rs1553333635
1 1.000 0.160 2 47806585 frameshift variant TATTCAAAAGGGACAT/- delins 0.700 0
dbSNP: rs1553333707
rs1553333707
1 1.000 0.160 2 47806614 stop gained G/A;T snv 0.700 0
dbSNP: rs1553413693
rs1553413693
1 1.000 0.160 2 47800298 frameshift variant -/GC delins 0.700 0
dbSNP: rs1558386797
rs1558386797
1 1.000 0.160 2 47803432 missense variant G/A snv 0.700 0
dbSNP: rs1558392617
rs1558392617
1 1.000 0.160 2 47806360 splice donor variant T/C snv 0.700 0
dbSNP: rs1558663559
rs1558663559
1 1.000 0.160 2 47799914 frameshift variant G/- delins 0.700 0
dbSNP: rs1558664335
rs1558664335
1 1.000 0.160 2 47800105 stop gained -/ATA delins 0.700 0
dbSNP: rs267608035
rs267608035
1 1.000 0.160 2 47795893 splice acceptor variant G/A snv 0.700 0
dbSNP: rs267608036
rs267608036
1 1.000 0.160 2 47791125 splice donor variant T/A snv 0.700 0
dbSNP: rs267608037
rs267608037
1 1.000 0.160 2 47795955 frameshift variant AG/- delins 0.700 0
dbSNP: rs267608046
rs267608046
1 1.000 0.160 2 47799460 stop gained G/T snv 0.700 0
dbSNP: rs267608048
rs267608048
1 1.000 0.160 2 47798738 stop gained C/G snv 0.700 0
dbSNP: rs267608049
rs267608049
1 1.000 0.160 2 47799597 stop gained TC/AG mnv 0.700 0