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: rs1555206402
rs1555206402
26 0.790 0.320 11 119093274 stop lost GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- delins 0.700 0
dbSNP: rs1555735545
rs1555735545
22 0.851 0.160 19 46746071 5 prime UTR variant G/A snv 0.700 0
dbSNP: rs193922941
rs193922941
2 1.000 0.120 14 23321472 start lost GGCGGCGGCGGCGGC/-;GGCGGC;GGCGGCGGC;GGCGGCGGCGGC;GGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC delins 0.700 0
dbSNP: rs201892814
rs201892814
8 1.000 0.040 15 42403721 intron variant C/G snv 3.1E-03; 2.4E-05 3.1E-03 0.700 0
dbSNP: rs28937900
rs28937900
37 0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 0.700 0
dbSNP: rs375817528
rs375817528
25 0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04 0.700 0
dbSNP: rs751093906
rs751093906
8 0.882 0.200 8 42472255 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs80338800
rs80338800
21 0.827 0.120 15 42387803 frameshift variant A/- delins 0.700 0