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: rs397515458
rs397515458
3 0.925 0.080 6 123503899 stop gained G/A snv 3.1E-05 5.6E-05 0.700 1.000 2 2012 2015
dbSNP: rs768049331
rs768049331
2 0.925 0.080 6 123571099 frameshift variant GTCT/- delins 2.8E-05 2.2E-04 0.700 1.000 2 2012 2015
dbSNP: rs1060502114
rs1060502114
1 1.000 0.080 6 123503894 frameshift variant C/- del 0.700 0
dbSNP: rs1085307100
rs1085307100
2 0.925 0.080 6 123512344 frameshift variant -/T delins 0.700 0
dbSNP: rs1381728472
rs1381728472
1 1.000 0.080 6 123265318 frameshift variant T/- delins 7.0E-06 0.700 0
dbSNP: rs1468290898
rs1468290898
1 1.000 0.080 6 123516162 stop gained T/A snv 7.0E-06 0.700 0
dbSNP: rs1554251609
rs1554251609
1 1.000 0.080 6 123512339 frameshift variant -/C delins 0.700 0
dbSNP: rs1554258777
rs1554258777
1 1.000 0.080 6 123570921 splice donor variant A/T snv 0.700 0
dbSNP: rs1562267979
rs1562267979
1 1.000 0.080 6 123337664 stop gained T/A snv 0.700 0
dbSNP: rs1562358749
rs1562358749
1 1.000 0.080 6 123515647 splice donor variant GGCATGAAATGGGAGCCAGTAGGCTGGGAGCAAGGTGAGAGGAAGGTTTTCACAAAGTATCTTTATGTGTTGAGCAATTAGAACTTATTATCTATTCTACATAAATAAATAACAATTAGAAATTAAAGCAATCTAATAGATAATCAAAATATGCAAGTTATAATAATGAGATCTACTTTCTTACCTATCAAACTGACAAGTATTTCTGATATAATATCCTCACTGCTGGCTAAGGCAGTCTCAAAACTGCCAGAGGAAAAACTGACGCAACATTTCTGGAAAGTTACCACTTTCCAGTTCAACAGTTCTTAACAGTCTGAAGTATTTTATTTCTCTCAATCCAGAAATTCCTTTTTTCAGATTCTATTCTGAGAAAATAATCCTAATCTAATTTGTAAAACTGCGTGGTCATCTAAAATCTGAATGTAAAGAGTAGGAAGTCAATGGGAAAGGACTCAGTGTGTTAAACAGTAATAAAAGTAACTTCATACCTTTCTTTTCAGGTTTTTCTTTTTCTCTTACTTT/- delins 0.700 0
dbSNP: rs202219343
rs202219343
1 1.000 0.080 6 123366174 stop gained G/A;C snv 1.3E-04; 5.2E-05 0.700 0
dbSNP: rs535908547
rs535908547
1 1.000 0.080 6 123438062 splice donor variant C/A;T snv 0.700 0
dbSNP: rs747836980
rs747836980
1 1.000 0.080 6 123255098 stop gained A/C snv 2.9E-05 2.1E-05 0.700 0
dbSNP: rs750469686
rs750469686
1 1.000 0.080 6 123255870 frameshift variant TCTT/- delins 2.6E-04 0.700 0
dbSNP: rs781420323
rs781420323
1 1.000 0.080 6 123255108 frameshift variant TT/- delins 2.2E-05 1.4E-05 0.700 0