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: rs1553759167
rs1553759167
CP
1 1.000 0.080 3 149185283 splice acceptor variant TGGGGAATAATCCCATTCCACCTCCACTGCTGCGATATAGTATGTCCTCTCTCCCAGGTAGAAGGTGGAATCCTCAGACTGCCGCCTGCATTGGTTCACAGTATATTTTTGCTTCATGCCGCCTGTGTAATGATCAGTTGTAAGGCATTCAACATTAAAAGTCCCTGGAGTGGTAAATAAGAAAACATGTCACTTCTTTGCTAGTGCCCTCTGGGGCTCTCCACCTTCCTCAGAATTA/- del 0.700 1.000 1 2015 2015
dbSNP: rs1553759338
rs1553759338
CP
1 1.000 0.080 3 149186168 splice acceptor variant GAAAAGTTTAGGTGCAGAATATTTATGGGAGTCATTCCCCTTCTAGTCTGATTTTCCAGCTATCTTTAAAAGGACCATAATCTAAAAAGGGATCATCTTGAGGAGCCTATGGAAGTGGAGAAAACCACACCATGTTCTTTTACTCCACATTGTCCTCAGTAACTAGGAAACAGACCTATCTGGTACATACTTCAGCTGATAGTGGCCTAGACTTGCTCTTTCAAAGATAGGAAGGGCACTTCAGAGGCTTGGGGAAGGGATAAGTTTATCACCCAACACATTCTGCTACAGGATTTTAAACCAAAACTACACAAATCCATCCAATAGAGACTTGGCTTTAAGTAAATATACCCTCTGTGTCAGGCCACATGTGGAGCGTAAGACTTGTTTGAGGGAAGAGGTTTGCTGTGTCTCTCCGTTCTCCTCTCCACAGATATGTGTTTCCTGAAAAGTATATTCCATGTACATCGGCCTCATTTCCGGCGCTGAATAAGTACCACACGACCGAATCTCCTTTGCACATAGTGAGACCCGGCTGATTCCCATACATGAATCCATTCATGGCTGTAAAAGTTGGGAAATAACATTTTGGAAGTGGTTTAGATTCTACTACATGACAACCTCACAGACTTTCCAGGACCAACTTTGTTTTTTTAATTTTTAAAAGACCTATTCAGGCTTGCCCACGCTTTATGTGTCAGGAGTATCCTTGCAACTCCTTGTGGTTCCTGGCATTTCAGAGCAGCCGCTGGCTGAAAGGAGCAGAGCTGAATGCATAGTTCTTGTTCTATGCTAGTGTCCCTAGCAACCTGGGAATCCCACTGCTCTTCCTGGCTAAAACAATGATTCTGTTATT/- delins 0.700 1.000 1 2016 2016
dbSNP: rs386134125
rs386134125
CP
1 1.000 0.080 3 149209342 missense variant A/G snv 0.700 1.000 1 2004 2004
dbSNP: rs386134133
rs386134133
CP
1 1.000 0.080 3 149177896 missense variant C/T snv 0.700 1.000 1 2006 2006
dbSNP: rs386134147
rs386134147
CP
1 1.000 0.080 3 149186531 frameshift variant G/- delins 0.700 1.000 1 2006 2006
dbSNP: rs1064797073
rs1064797073
CP
1 1.000 0.080 3 149198401 missense variant C/A snv 0.700 0
dbSNP: rs1135401784
rs1135401784
CP
3 0.925 0.120 3 149178537 missense variant A/G snv 0.700 0
dbSNP: rs1553761391
rs1553761391
CP
1 1.000 0.080 3 149198573 splice acceptor variant -/AC delins 0.700 0
dbSNP: rs1553762556
rs1553762556
CP
1 1.000 0.080 3 149206167 splice donor variant C/T snv 0.700 0
dbSNP: rs1559935542
rs1559935542
CP
1 1.000 0.080 3 149178590 frameshift variant -/C delins 0.700 0
dbSNP: rs1559940237
rs1559940237
CP
1 1.000 0.080 3 149185271 stop gained C/T snv 0.700 0
dbSNP: rs386134121
rs386134121
CP
1 1.000 0.080 3 149221711 missense variant T/A snv 0.700 0
dbSNP: rs386134122
rs386134122
CP
1 1.000 0.080 3 149210281 missense variant G/C snv 0.700 0
dbSNP: rs386134126
rs386134126
CP
1 1.000 0.080 3 149207551 missense variant C/G snv 0.700 0
dbSNP: rs386134127
rs386134127
CP
1 1.000 0.080 3 149206327 missense variant G/T snv 0.700 0
dbSNP: rs386134128
rs386134128
CP
1 1.000 0.080 3 149206253 missense variant A/G;T snv 0.700 0
dbSNP: rs386134129
rs386134129
CP
1 1.000 0.080 3 149186723 missense variant C/T snv 0.700 0
dbSNP: rs386134130
rs386134130
CP
1 1.000 0.080 3 149185393 missense variant G/T snv 0.700 0
dbSNP: rs386134131
rs386134131
CP
1 1.000 0.080 3 149178618 missense variant C/T snv 0.700 0
dbSNP: rs386134132
rs386134132
CP
1 1.000 0.080 3 149177905 missense variant T/C snv 0.700 0
dbSNP: rs386134134
rs386134134
CP
1 1.000 0.080 3 149221646 splice donor variant C/A;T snv 0.700 0
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: rs386134138
rs386134138
CP
1 1.000 0.080 3 149202239 splice acceptor variant -/AC delins 0.700 0
dbSNP: rs386134139
rs386134139
CP
1 1.000 0.080 3 149186733 splice acceptor variant C/T snv 0.700 0