Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555534307
NF1
1.000 0.120 17 31334377 splice donor variant TTTTGCGGGGGAGTGGGAGTGGGTTATACCTGTGTACACACACATAAATGTACATTAACTCTACATAAATTTGAAAGCCTGAGGAGAGATGAGATGATACACCAATGTTAATACAGTTTTCATTTTGTGGTGATGCTTTCCTTTTACCAAACTTTCTATGATTACCACATTTCCTTTTATAATGAGAATAAAACAACTTTTTAACAAGAAAGGACTAAAATGGAGGAAAATAAGACAAAACTTTTCAAAAATTGGCTTACTGGCTTTTAAAATTACTTTCTTCAAGGACTGTTCTTTCTTCGCCTCTACAAAAATATATTTGCCAAGTGTCTTTTCTCCAGGCCTGATTCTAGGTAATAGTCTTTACCTTTTACCATTTTTTCCCCGAATTCTTTATGTTAAATAATTGTTGATGTGATTTTCATTGACCATCACATGCTAATAGTGTATTTTTTTCCAGGTATTGAATTGAAACACCTTTGTTTGGAATACATGACTCCATGGCTGTCAAATCTAGTTCGTTTTTGCAAGCATAATGATGATGCCAAACGACAAAGAGTTACTGCTATTCTTGACAAGCTGATAACAATGACCATCAATGAAAAACAGATGTACCCATCTATTCAAGCAAAAATATGGGGAAGCCTTGGGCAGGTATTGAGTTTGCTCAAATATTTATCTAGTATCTCCTTTGTGCACATATTTATCTGGTGCCACATTGGGCAAAGCACTGCGCTAGACACTAGGGATAGAGTTGTAAAAAACACAGTTTCCTCCTTCAGAAAGCATGTAGACACTCACCCAGCTCTTCATCTGGTTCAAAATTGTAAATGTCTAGTGCATGTCTCAGAGCCAGAGAAAAGCTAGTTATTTGCACAGTCTCCTTCAAGGCATAATT/- delins 1
rs1064794276
NF1
0.925 0.120 17 31235639 frameshift variant TTTG/- delins 2
rs1567613682
NF1
1.000 0.120 17 31330408 frameshift variant TTGTCTCTATTAGTAAGACA/- delins 1
rs1135402848
NF1
1.000 0.120 17 31233193 frameshift variant TTCCTTGTTCTCAGTGG/- delins 1
rs1555619413
NF1
1.000 0.120 17 31265320 frameshift variant TTATT/- delins 1
rs1555614169
NF1
1.000 0.120 17 31228915 splice donor variant TTACATTTTTTGTACTTTTGTCATGGAAGAAATGTTGGATAAAGCATAATTTGTCAAGTCTCAACTAATTAAGGTTTAATTCATGCTTTGCACAAAAATTTTGTGTTTAGGCTGCTGAAAGCCTTCACAAGACCATTGTTAAGAGGCGAATGTCCCATGTGAGTGGAGGAGGATCCATAGATTTGTCTGACACAGACTCCCTACAGGAATGGATCAACATGACTGGCTTCCTTTGTGCCCTTGGGGGAGTGTGCCTCCAGCAGAGAAGCAATTCTGGCCTGGCAACCTATAGCCCACCCATGGGTCCAGTCAGTGAACGTAAGGGTTCTATGATTTCAGTGATGTCTTCAGAGGGAAACGCAGATACACCTGTCAGCAAATTTATGGATCGGCTGTTGTCCTTAATGGTGTGTAACCATGAGAAAGTGGGACTTCAAATACGGACCAATGTTAAGGATCTGGTGGGTCTAGAATTGAGTCCTGCTCTGTATCCAATGCTATTTAACAAATTGAAGAATACCATCAGCAAGTTTTTTGACTCCCAAGGACAGGTAAAGTGTTCTCTTATTTTTCACCTTTCTCTATGAATAGAGTGACTTGTTTGAAATAAGCCTTT/AAAA delins 1
rs1555535032
NF1
0.882 0.120 17 31338734 frameshift variant TTAC/- delins 9
rs1135402789
NF1
1.000 0.120 17 31169949 frameshift variant TTAC/- del 1
rs1555610900
NF1
1.000 0.120 17 31200526 frameshift variant TTAC/- delins 1
rs1555533543
NF1
1.000 0.120 17 31327455 splice acceptor variant TTAATTCTTCTCCACTTCACCCCGTCACCACCACTTTCCAGGTTGGTTCTACTGCTGTCCAAGT/- delins 1
rs1555610860
NF1
1.000 0.120 17 31200453 frameshift variant TT/A delins 1
rs1060500338
NF1
1.000 0.120 17 31337427 frameshift variant TT/- del 1
rs1555533552
NF1
1.000 0.120 17 31327525 frameshift variant TT/- del 1
rs786201874
NF1
1.000 0.120 17 31169906 frameshift variant TGTT/- delins 1
rs1555535448
NF1
1.000 0.120 17 31343115 protein altering variant TGGTTGGACA/CAGC delins 1
rs1060500301
NF1
1.000 0.120 17 31200455 frameshift variant TGGC/- delins 1
rs1060500323
NF1
1.000 0.120 17 31182532 inframe deletion TGG/- delins 1
rs786204154
NF1
1.000 0.120 17 31227260 frameshift variant TGAGCAT/- delins 1
rs1567847962
NF1
1.000 0.120 17 31227288 frameshift variant TG/- del 1
rs771115661
NF1
1.000 0.120 17 31159045 frameshift variant TCTC/-;TC delins 2
rs1135402868
NF1
1.000 0.120 17 31326014 inframe deletion TCTATA/- delins 1
rs1555534952
NF1
1.000 0.120 17 31338100 stop gained TCATGGGCAGAT/ATGAGAC delins 1
rs1135402887
NF1
1.000 0.120 17 31337392 frameshift variant TCAGT/A delins 1
rs878853871
NF1
1.000 0.120 17 31226431 splice acceptor variant TCAGGATAGTGCA/- del 1
rs1555610984
NF1
1.000 0.120 17 31201075 frameshift variant TCAG/- delins 1