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: rs267608122
rs267608122
4 0.925 0.160 2 47806651 missense variant G/A;C snv 0.700 1.000 10 1994 2016
dbSNP: rs587779227
rs587779227
4 0.925 0.160 2 47800040 missense variant G/A snv 1.4E-05 0.700 1.000 8 2008 2017
dbSNP: rs63750741
rs63750741
4 0.827 0.200 2 47799329 missense variant T/C snv 1.2E-05 0.700 1.000 7 2004 2016
dbSNP: rs267608121
rs267608121
4 0.925 0.160 2 47806630 frameshift variant -/GTCA delins 0.700 1.000 6 2003 2015
dbSNP: rs267608058
rs267608058
6 0.851 0.200 2 47800130 frameshift variant TCAG/- delins 7.0E-06 0.700 1.000 5 1999 2012
dbSNP: rs193922343
rs193922343
4 0.925 0.160 2 47806254 frameshift variant AGAA/-;AGAAAAGAA;AGAAAGAA delins 0.700 1.000 3 2008 2015
dbSNP: rs267608094
rs267608094
4 0.925 0.160 2 47806641 stop gained C/A;T snv 4.1E-06; 4.1E-06 0.700 1.000 3 2006 2011
dbSNP: rs267608120
rs267608120
4 0.925 0.160 2 47806606 frameshift variant CAAG/- delins 0.700 1.000 3 2003 2011
dbSNP: rs267608128
rs267608128
4 0.925 0.160 2 47806496 frameshift variant -/ATTA delins 0.700 1.000 3 2010 2012
dbSNP: rs63749873
rs63749873
5 0.882 0.160 2 47795903 stop gained C/G snv 4.0E-06 1.4E-05 0.700 1.000 3 2004 2013
dbSNP: rs63751327
rs63751327
4 0.925 0.160 2 47804984 frameshift variant -/A;AA delins 0.700 1.000 3 2007 2010
dbSNP: rs267608078
rs267608078
5 0.882 0.160 2 47803501 frameshift variant C/-;CC;CCC delins 0.700 1.000 2 1999 2008
dbSNP: rs267608098
rs267608098
4 0.925 0.160 2 47804908 splice acceptor variant A/G;T snv 0.700 1.000 2 1999 2010
dbSNP: rs63750909
rs63750909
4 0.925 0.160 2 47799427 stop gained C/A;G;T snv 4.0E-06 0.700 1.000 2 2004 2011
dbSNP: rs63751017
rs63751017
6 0.851 0.240 2 47800714 stop gained C/A;T snv 1.4E-05 0.700 1.000 2 2012 2015
dbSNP: rs63751319
rs63751319
4 0.925 0.160 2 47806490 frameshift variant GGAGACT/- del 0.700 1.000 2 2006 2008
dbSNP: rs786201050
rs786201050
4 0.925 0.160 2 47800211 frameshift variant -/G delins 7.0E-06 0.700 1.000 2 2013 2017
dbSNP: rs587779241
rs587779241
3 0.925 0.160 2 47800517 frameshift variant -/T delins 0.700 1.000 1 2010 2010
dbSNP: rs63750119
rs63750119
4 0.925 0.160 2 47806282 missense variant G/A;T snv 4.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs730881816
rs730881816
4 0.925 0.160 2 47799788 stop gained C/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs730881827
rs730881827
3 1.000 0.160 2 47800815 frameshift variant AA/- del 0.700 1.000 1 2016 2016
dbSNP: rs786201042
rs786201042
6 0.827 0.240 2 47783243 stop gained C/G;T snv 2.5E-05 0.700 1.000 1 2015 2015
dbSNP: rs878853702
rs878853702
3 1.000 0.160 2 47799332 frameshift variant AT/- delins 0.700 1.000 1 2016 2016
dbSNP: rs1057517551
rs1057517551
3 1.000 0.160 2 47798890 frameshift variant -/T delins 0.700 0
dbSNP: rs1057517552
rs1057517552
1 1.000 0.160 2 47803459 frameshift variant GTCCTATG/- delins 0.700 0