Source: ALL
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: rs386134136
rs386134136
CP
1 1.000 0.080 3 149210166 splice donor variant C/T snv 0.700 0
dbSNP: rs386134137
rs386134137
CP
1 1.000 0.080 3 149202243 splice acceptor variant T/C snv 7.0E-06 0.700 0
dbSNP: rs386134139
rs386134139
CP
1 1.000 0.080 3 149186733 splice acceptor variant C/T snv 0.700 0
dbSNP: rs386134140
rs386134140
CP
1 1.000 0.080 3 149182004 splice donor variant C/A snv 0.700 0
dbSNP: rs386134141
rs386134141
CP
3 0.925 0.120 3 149177980 splice acceptor variant C/A;T snv 0.700 0
dbSNP: rs386134142
rs386134142
CP
2 0.925 0.080 3 149176413 splice acceptor variant C/T snv 0.700 0
dbSNP: rs386134156
rs386134156
CP
1 1.000 0.080 3 149178592 stop gained G/A snv 2.4E-05 1.4E-05 0.700 0
dbSNP: rs769313989
rs769313989
CP
1 1.000 0.080 3 149207387 missense variant A/T snv 4.0E-06 0.700 0
dbSNP: rs1553759338
rs1553759338
CP
1 1.000 0.080 3 149186168 splice acceptor variant GAAAAGTTTAGGTGCAGAATATTTATGGGAGTCATTCCCCTTCTAGTCTGATTTTCCAGCTATCTTTAAAAGGACCATAATCTAAAAAGGGATCATCTTGAGGAGCCTATGGAAGTGGAGAAAACCACACCATGTTCTTTTACTCCACATTGTCCTCAGTAACTAGGAAACAGACCTATCTGGTACATACTTCAGCTGATAGTGGCCTAGACTTGCTCTTTCAAAGATAGGAAGGGCACTTCAGAGGCTTGGGGAAGGGATAAGTTTATCACCCAACACATTCTGCTACAGGATTTTAAACCAAAACTACACAAATCCATCCAATAGAGACTTGGCTTTAAGTAAATATACCCTCTGTGTCAGGCCACATGTGGAGCGTAAGACTTGTTTGAGGGAAGAGGTTTGCTGTGTCTCTCCGTTCTCCTCTCCACAGATATGTGTTTCCTGAAAAGTATATTCCATGTACATCGGCCTCATTTCCGGCGCTGAATAAGTACCACACGACCGAATCTCCTTTGCACATAGTGAGACCCGGCTGATTCCCATACATGAATCCATTCATGGCTGTAAAAGTTGGGAAATAACATTTTGGAAGTGGTTTAGATTCTACTACATGACAACCTCACAGACTTTCCAGGACCAACTTTGTTTTTTTAATTTTTAAAAGACCTATTCAGGCTTGCCCACGCTTTATGTGTCAGGAGTATCCTTGCAACTCCTTGTGGTTCCTGGCATTTCAGAGCAGCCGCTGGCTGAAAGGAGCAGAGCTGAATGCATAGTTCTTGTTCTATGCTAGTGTCCCTAGCAACCTGGGAATCCCACTGCTCTTCCTGGCTAAAACAATGATTCTGTTATT/- delins 0.700 1.000 1 2016 2016
dbSNP: rs386134147
rs386134147
CP
1 1.000 0.080 3 149186531 frameshift variant G/- delins 0.700 1.000 1 2006 2006
dbSNP: rs1553761391
rs1553761391
CP
1 1.000 0.080 3 149198573 splice acceptor variant -/AC delins 0.700 0
dbSNP: rs1559935542
rs1559935542
CP
1 1.000 0.080 3 149178590 frameshift variant -/C delins 0.700 0
dbSNP: rs386134138
rs386134138
CP
1 1.000 0.080 3 149202239 splice acceptor variant -/AC delins 0.700 0
dbSNP: rs386134143
rs386134143
CP
2 0.925 0.080 3 149210167 frameshift variant -/T delins 1.2E-05 0.700 0
dbSNP: rs386134145
rs386134145
CP
2 0.925 0.080 3 149202163 frameshift variant -/GTGTA delins 4.0E-06 0.700 0
dbSNP: rs386134149
rs386134149
CP
2 1.000 0.080 3 149183502 frameshift variant C/- delins 0.700 0
dbSNP: rs386134150
rs386134150
CP
1 1.000 0.080 3 149182077 frameshift variant C/- delins 0.700 0
dbSNP: rs386134151
rs386134151
CP
1 1.000 0.080 3 149182047 frameshift variant -/A delins 0.700 0
dbSNP: rs386134152
rs386134152
CP
1 1.000 0.080 3 149179614 frameshift variant C/- delins 0.700 0
dbSNP: rs386134154
rs386134154
CP
1 1.000 0.080 3 149177940 frameshift variant -/T delins 0.700 0
dbSNP: rs587777922
rs587777922
CP
1 1.000 0.080 3 149185339 frameshift variant G/- delins 0.700 0
dbSNP: rs1553759167
rs1553759167
CP
1 1.000 0.080 3 149185283 splice acceptor variant TGGGGAATAATCCCATTCCACCTCCACTGCTGCGATATAGTATGTCCTCTCTCCCAGGTAGAAGGTGGAATCCTCAGACTGCCGCCTGCATTGGTTCACAGTATATTTTTGCTTCATGCCGCCTGTGTAATGATCAGTTGTAAGGCATTCAACATTAAAAGTCCCTGGAGTGGTAAATAAGAAAACATGTCACTTCTTTGCTAGTGCCCTCTGGGGCTCTCCACCTTCCTCAGAATTA/- del 0.700 1.000 1 2015 2015
dbSNP: rs386134144
rs386134144
CP
1 1.000 0.080 3 149202192 frameshift variant AA/- del 0.700 0
dbSNP: rs386134146
rs386134146
CP
1 1.000 0.080 3 149186679 frameshift variant C/- del 0.700 0
dbSNP: rs386134148
rs386134148
CP
1 1.000 0.080 3 149186529 frameshift variant C/- del 0.700 0