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: rs17233497
rs17233497
4 0.846 0.107 16 89748744 missense variant G/A snp 5.1E-02 5.6E-02 0.710 1.000 3 1999 2013
dbSNP: rs794726660
rs794726660
2 0.923 0.107 16 89742841 frameshift variant ATGTTT/A in-del 0.710 1.000 2 2005 2014
dbSNP: rs397507552
rs397507552
2 0.923 0.107 16 89792034 frameshift variant GCCAA/G in-del 4.0E-06; 7.2E-05 3.2E-05 0.700 5 1993 2015
dbSNP: rs772359099
rs772359099
1 1.000 0.107 16 89795922 frameshift variant TGTGA/T in-del 3.6E-05 9.6E-05 0.700 5 1998 2015
dbSNP: rs762902309
rs762902309
1 1.000 0.107 16 89739285 frameshift variant AG/A in-del 0.700 3 1999 2016
dbSNP: rs149277003
rs149277003
4 0.846 0.107 16 89746890 missense variant T/C snp 2.5E-05 6.4E-05 0.700 2 1998 1999
dbSNP: rs17233141
rs17233141
3 0.878 0.107 16 89767168 missense variant G/C snp 1.0E-02 6.1E-03 0.700 2 1999 2000
dbSNP: rs182657062
rs182657062
3 0.878 0.107 16 89739517 missense variant G/A snp 1.3E-05 0.700 2 1999 2008
dbSNP: rs372163487
rs372163487
1 1.000 0.107 16 89799620 stop gained G/A snp 1.2E-05 0.700 2 2006 2012
dbSNP: rs574034197
rs574034197
4 0.846 0.107 16 89746848 missense variant T/C,G snp 8.7E-05 6.4E-05 0.700 2 1998 2008
dbSNP: rs747851434
rs747851434
2 0.923 0.107 16 89745026 frameshift variant T/TC in-del 1.2E-05 9.6E-05 0.700 2 1999 2008
dbSNP: rs752160950
rs752160950
2 0.923 0.107 16 89767185 stop gained G/A,C snp 1.2E-05; 4.0E-06 0.700 2 2005 2009
dbSNP: rs868273545
rs868273545
1 1.000 0.107 16 89742803 frameshift variant CCT/C in-del 0.700 2 1998 2016
dbSNP: rs1057516430
rs1057516430
1 1.000 0.107 16 89811060 stop gained G/A snp 0.700 1 2005 2005
dbSNP: rs121907930
rs121907930
1 1.000 0.107 16 89810716 stop gained C/T snp 0.700 1 2003 2003
dbSNP: rs141422170
rs141422170
1 1.000 0.107 16 89745049 missense variant G/C snp 3.3E-05 0.700 1 2015 2015
dbSNP: rs148473140
rs148473140
3 0.878 0.107 16 89791459 missense variant G/A snp 8.0E-06 3.2E-05 0.700 1 1998 1998
dbSNP: rs149551759
rs149551759
1 1.000 0.107 16 89791422 missense variant G/A snp 3.8E-04 4.8E-04 0.700 1 2015 2015
dbSNP: rs149851163
rs149851163
3 0.878 0.107 16 89738943 missense variant C/T snp 3.6E-05 6.4E-05 0.700 1 2008 2008
dbSNP: rs17227396
rs17227396
3 0.878 0.107 16 89739264 missense variant C/T snp 4.8E-03 4.8E-04 0.700 1 2008 2008
dbSNP: rs17227403
rs17227403
3 0.878 0.107 16 89738893 missense variant G/A,C snp 4.0E-06; 3.5E-03 3.8E-03 0.700 1 1998 1998
dbSNP: rs374030577
rs374030577
3 0.878 0.107 16 89767215 missense variant A/C,T snp 4.0E-06 0.700 1 2008 2008
dbSNP: rs397507553
rs397507553
2 0.923 0.107 16 89740842 inframe deletion GAGA/G in-del 1.0E-04 9.6E-05 0.700 1 1993 1993
dbSNP: rs55770810
rs55770810
10 0.769 0.250 17 43063931 missense variant G/A,T snp 2.4E-05; 8.0E-06 0.700 1 2015 2015
dbSNP: rs587776570
rs587776570
1 1.000 0.107 16 89782879 frameshift variant GA/G in-del 0.700 1 2003 2003