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: rs867114783
rs867114783
6 17 7675109 missense variant T/C snv 0.700 1.000 6 1998 2007
dbSNP: rs587782490
rs587782490
1 17 7676030 frameshift variant GCCCAGACGGAA/- delins 0.700 1.000 5 1998 2014
dbSNP: rs587780068
rs587780068
1 17 7675140 missense variant G/A snv 8.0E-06 1.4E-05 0.700 1.000 4 2003 2017
dbSNP: rs730882006
rs730882006
1 17 7674235 missense variant A/G snv 0.700 1.000 4 2002 2010
dbSNP: rs780442292
rs780442292
1 17 7675211 missense variant A/C snv 4.0E-06 0.700 1.000 3 2001 2008
dbSNP: rs1131691037
rs1131691037
1 17 7675220 missense variant T/A snv 0.700 1.000 2 2008 2012
dbSNP: rs1555526004
rs1555526004
1 17 7675079 missense variant T/G snv 0.700 1.000 2 1997 1999
dbSNP: rs587781564
rs587781564
1 17 7673772 protein altering variant CGCCGGTCTCT/TG delins 0.700 1.000 2 1998 2012
dbSNP: rs587782160
rs587782160
2 17 7675221 missense variant T/A snv 0.700 1.000 2 2008 2013
dbSNP: rs876658144
rs876658144
1 17 7674866 inframe deletion TCATAGGGC/- delins 0.700 1.000 2 2000 2010
dbSNP: rs876659260
rs876659260
1 17 7674227 inframe deletion GCCGCCCATGCAGGAACTGTT/- delins 0.700 1.000 2 2002 2012
dbSNP: rs876660726
rs876660726
1 17 7673718 frameshift variant G/- delins 0.700 1.000 2 2000 2017
dbSNP: rs1060501195
rs1060501195
1 17 7676056 missense variant C/G;T snv 0.700 1.000 1 2004 2004
dbSNP: rs1555525156
rs1555525156
1 17 7673756 frameshift variant -/CTTCTCTTCCTCTGTGC delins 0.700 1.000 1 2003 2003
dbSNP: rs1555525539
rs1555525539
1 17 7674249 frameshift variant CA/- delins 0.700 1.000 1 2002 2002
dbSNP: rs1555526082
rs1555526082
1 17 7675100 frameshift variant CGTC/- delins 0.700 1.000 1 2009 2009
dbSNP: rs750600586
rs750600586
3 17 7675199 missense variant G/A;T snv 0.010 1.000 1 1993 1993
dbSNP: rs786202222
rs786202222
1 17 7674916 stop gained A/G;T snv 4.0E-06 0.700 1.000 1 2000 2000
dbSNP: rs876658982
rs876658982
1 17 7669691 splice acceptor variant C/T snv 0.700 1.000 1 2011 2011
dbSNP: rs876660829
rs876660829
2 17 7673598 missense variant G/C;T snv 8.0E-06 0.010 1.000 1 1993 1993
dbSNP: rs1057522275
rs1057522275
1 17 7674246 missense variant G/A;C snv 0.700 0
dbSNP: rs1131691005
rs1131691005
1 17 7670691 frameshift variant T/- del 0.700 0
dbSNP: rs1131691008
rs1131691008
1 17 7670659 frameshift variant AG/- delins 0.700 0
dbSNP: rs1131691010
rs1131691010
1 17 7676120 frameshift variant GC/- delins 0.700 0
dbSNP: rs1131691011
rs1131691011
1 17 7674932 frameshift variant T/- delins 0.700 0