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: rs80338963
rs80338963
11 0.776 0.280 18 51065548 missense variant C/A;G;T snv 0.800 1.000 14 1997 2016
dbSNP: rs199476087
rs199476087
2 1.000 0.120 10 86899830 missense variant T/C snv 0.800 1.000 8 2001 2017
dbSNP: rs199476088
rs199476088
1 1.000 0.120 10 86919430 missense variant G/A snv 0.800 1.000 8 2001 2017
dbSNP: rs199476086
rs199476086
3 0.925 0.120 10 86919316 missense variant C/A;T snv 0.800 1.000 4 2001 2003
dbSNP: rs281875324
rs281875324
3 1.000 0.120 18 51065456 missense variant A/C;G snv 0.800 1.000 2 1998 2002
dbSNP: rs80338965
rs80338965
5 0.851 0.480 18 51067121 frameshift variant CAGA/- delins 0.700 1.000 12 1998 2017
dbSNP: rs587783060
rs587783060
1 1.000 0.120 18 51078354 frameshift variant -/A delins 0.700 1.000 11 2000 2013
dbSNP: rs377767347
rs377767347
14 0.742 0.520 18 51065549 missense variant G/A;C;T snv 0.700 1.000 8 1998 2016
dbSNP: rs281875322
rs281875322
6 0.807 0.480 18 51078306 missense variant A/G snv 4.0E-06 0.700 1.000 7 2011 2016
dbSNP: rs587783038
rs587783038
1 1.000 0.120 10 86890109 frameshift variant -/A ins 0.700 1.000 7 2001 2013
dbSNP: rs1555687386
rs1555687386
1 1.000 0.120 18 51076734 frameshift variant -/CCCT delins 0.700 1.000 6 1997 2012
dbSNP: rs1568211187
rs1568211187
1 1.000 0.120 18 51076670 frameshift variant AGCAGCAGGCGGCTACTGCACAAGC/- delins 0.700 1.000 5 1997 2012
dbSNP: rs199476089
rs199476089
1 1.000 0.120 10 86923442 missense variant T/C snv 0.700 1.000 4 2001 2003
dbSNP: rs1555685248
rs1555685248
1 1.000 0.120 18 51049326 splice donor variant T/C snv 0.700 1.000 3 2005 2012
dbSNP: rs1555686086
rs1555686086
1 1.000 0.120 18 51059916 splice donor variant G/- delins 0.700 1.000 3 2005 2012
dbSNP: rs1555687377
rs1555687377
1 1.000 0.120 18 51076637 splice acceptor variant G/A snv 0.700 1.000 3 2005 2012
dbSNP: rs1564673999
rs1564673999
1 1.000 0.120 10 86756638 splice donor variant CGGCCGCTGCAGAGATTGGAATCCGCCTGCCGGGCTTGGCGAAGGAGAAGGGAGGAGGCAGGAGCGAGGAGGGAGGAGGGCCAAGGGCGGGCAGGAAGGCTTAGGCTCGGCGCGTCCGTCCGCGCGCGGCGAAGATCGCACGGCCCGATCGAGGGGCGACCGGGTCGGGGCCGCTGCACGCCAAGGGCGAAGGCCGATTCGGGCCCCACTTCGCCCCGGCGGCTCGCCGCGCCCACCCGCTCCGCGCCGAGGGCTGGAGGATGCGTTCCCTGGGGTCCGGG/- delins 0.700 1.000 3 2010 2012
dbSNP: rs1568208715
rs1568208715
1 1.000 0.120 18 51067017 splice acceptor variant A/C snv 0.700 1.000 3 2005 2012
dbSNP: rs397518413
rs397518413
4 0.882 0.400 18 51078294 missense variant C/T snv 8.0E-06 0.700 1.000 3 2014 2014
dbSNP: rs587781618
rs587781618
2 1.000 0.120 18 51067188 splice donor variant G/A;T snv 0.700 1.000 3 2005 2012
dbSNP: rs1060500740
rs1060500740
1 1.000 0.120 18 51076778 splice donor variant T/C snv 0.700 1.000 2 2006 2012
dbSNP: rs1060503408
rs1060503408
1 1.000 0.120 10 86919236 frameshift variant C/- delins 0.700 1.000 2 2001 2002
dbSNP: rs121912581
rs121912581
2 0.925 0.200 18 51065521 missense variant G/A snv 0.700 1.000 2 1998 2002
dbSNP: rs1554886816
rs1554886816
1 1.000 0.120 10 86876060 frameshift variant TGTT/- delins 0.700 1.000 2 2001 2013
dbSNP: rs1564715427
rs1564715427
1 1.000 0.120 10 86892126 splice acceptor variant G/C snv 0.700 1.000 2 2001 2002