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: rs56144125
rs56144125
4 0.878 0.107 11 6617154 splice acceptor variant C/A,G,T snp 4.0E-04; 1.2E-05 3.8E-04 0.700 7 1997 2017
dbSNP: rs119455955
rs119455955
4 0.878 0.107 11 6617040 stop gained G/A snp 2.2E-04 4.8E-04 0.700 6 1997 2017
dbSNP: rs386833694
rs386833694
2 0.923 0.107 16 28482161 missense variant G/A,T snp 4.0E-06 0.700 6 1997 2009
dbSNP: rs587776892
rs587776892
2 0.923 0.107 20 63930875 inframe deletion CCTC/C in-del 0.700 6 2011 2017
dbSNP: rs386833645
rs386833645
2 0.923 0.107 1 40097236 start lost C/T snp 0.700 5 1998 2007
dbSNP: rs386833967
rs386833967
2 0.923 0.107 13 77000848 frameshift variant AAACA/A in-del 0.700 4 2008 2017
dbSNP: rs119455954
rs119455954
3 0.878 0.107 11 6616056 missense variant C/T snp 1.6E-05 3.2E-05 0.700 3 1999 2017
dbSNP: rs137852700
rs137852700
4 0.846 0.107 1 40089495 stop gained G/A,C snp 2.4E-04; 1.2E-05 2.6E-04 0.700 3 1998 2014
dbSNP: rs386833659
rs386833659
2 0.923 0.107 1 40078659 splice acceptor variant C/A,T snp 4.0E-06 0.700 3 2000 2007
dbSNP: rs398122959
rs398122959
2 0.923 0.107 11 6615199 missense variant A/C snp 4.0E-06 3.2E-05 0.700 2 2013 2017
dbSNP: rs1060502179
rs1060502179
1 1.000 0.107 11 6618823 missense variant A/C snp 0.700 1 2017 2017
dbSNP: rs119455957
rs119455957
3 0.878 0.107 11 6616696 missense variant C/A snp 8.0E-06 0.700 1 2017 2017
dbSNP: rs121908199
rs121908199
3 0.878 0.107 11 6615542 missense variant C/T snp 0.700 1 2017 2017
dbSNP: rs121908200
rs121908200
4 0.878 0.107 11 6615442 missense variant C/G snp 2.0E-05 0.700 1 2017 2017
dbSNP: rs121908209
rs121908209
3 0.878 0.107 11 6617045 missense variant C/G,T snp 4.0E-06; 4.0E-06 0.700 1 2017 2017
dbSNP: rs144495588
rs144495588
1 1.000 0.107 8 1771553 stop gained G/C,T snp 8.0E-06; 1.2E-05 3.2E-05 0.700 1 2015 2015
dbSNP: rs202189057
rs202189057
2 1.000 0.107 11 6617695 stop gained A/T snp 4.0E-06 0.700 1 2017 2017
dbSNP: rs386833736
rs386833736
2 0.923 0.107 16 28486401 frameshift variant G/GA in-del 1.2E-05 0.700 1 2017 2017
dbSNP: rs386833740
rs386833740
2 0.923 0.107 16 28482344 stop gained G/GT in-del 3.2E-05; 4.0E-06 3.2E-05 0.700 1 2017 2017
dbSNP: rs546989392
rs546989392
2 0.923 0.107 13 76996010 stop gained C/T snp 2.0E-05 9.6E-05 0.700 1 2017 2017
dbSNP: rs750428882
rs750428882
1 1.000 0.107 11 6616375 missense variant G/A,C snp 4.0E-06 0.700 1 2017 2017
dbSNP: rs774543080
rs774543080
2 0.923 0.107 15 68211765 frameshift variant CAG/C in-del 8.0E-06 0.700 1 2017 2017
dbSNP: rs786204644
rs786204644
2 0.923 0.107 13 77000669 frameshift variant TAT/T in-del 0.700 1 2017 2017
dbSNP: rs786204753
rs786204753
2 0.923 0.107 11 6615217 stop gained C/T snp 0.700 1 2017 2017
dbSNP: rs137852695
rs137852695
5 0.846 0.107 1 40091398 missense variant T/A snp 7.0E-04 1.2E-03 0.700 0