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: rs1554162524
rs1554162524
4 0.882 0.160 6 79925034 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1556408009
rs1556408009
3 0.925 0.200 X 123900534 stop gained C/T snv 0.700 0
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2001 2001
dbSNP: rs374520012
rs374520012
LBP
3 0.882 0.120 20 38373994 missense variant T/C;G snv 8.0E-06; 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs77375493
rs77375493
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2005 2005
dbSNP: rs1475145065
rs1475145065
3 0.882 0.080 14 24574706 missense variant C/G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs747126003
rs747126003
18 0.689 0.400 7 22728790 missense variant A/G;T snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs773829498
rs773829498
3 0.882 0.080 7 101130457 missense variant A/G snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs121917864
rs121917864
31 0.645 0.520 4 153704936 missense variant C/T snv 8.8E-05 9.8E-05 0.010 1.000 1 2008 2008
dbSNP: rs773520745
rs773520745
3 0.882 0.120 19 18075817 missense variant C/G;T snv 2.0E-05; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs8177374
rs8177374
22 0.672 0.520 11 126292948 missense variant C/T snv 0.12 0.11 0.010 1.000 1 2009 2009
dbSNP: rs121918094
rs121918094
TTR
8 0.827 0.280 18 31592921 missense variant T/C snv 0.010 1.000 1 2010 2010
dbSNP: rs1891320
rs1891320
2 0.925 0.080 1 19970618 upstream gene variant C/T snv 0.20 0.010 1.000 1 2010 2010
dbSNP: rs5744105
rs5744105
2 0.925 0.080 1 223142735 intron variant G/C snv 0.57 0.010 1.000 1 2010 2010
dbSNP: rs595209
rs595209
2 0.925 0.080 11 126292326 intron variant A/C;G snv 0.010 1.000 1 2010 2010
dbSNP: rs8177375
rs8177375
2 0.925 0.080 11 126293169 3 prime UTR variant A/G snv 0.12 0.13 0.010 1.000 1 2010 2010
dbSNP: rs3804099
rs3804099
40 0.627 0.680 4 153703504 synonymous variant T/C snv 0.40 0.48 0.020 1.000 2 2010 2011
dbSNP: rs10506481
rs10506481
3 0.882 0.080 12 66250331 3 prime UTR variant T/C snv 9.0E-02 0.010 < 0.001 1 2011 2011
dbSNP: rs12048215
rs12048215
3 0.882 0.160 1 247421289 intron variant A/G snv 0.11 0.010 1.000 1 2011 2011
dbSNP: rs187084
rs187084
36 0.641 0.480 3 52227015 intron variant A/G snv 0.38 0.010 1.000 1 2011 2011
dbSNP: rs2027432
rs2027432
3 0.882 0.160 1 247415139 upstream gene variant A/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs352162
rs352162
3 0.882 0.160 3 52218953 non coding transcript exon variant T/C snv 0.55 0.010 1.000 1 2011 2011
dbSNP: rs5743867
rs5743867
3 0.882 0.120 11 1307121 intron variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs2066845
rs2066845
46 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.020 1.000 2 2007 2012
dbSNP: rs11465996
rs11465996
7 0.790 0.240 8 73989727 upstream gene variant C/G snv 0.25 0.010 1.000 1 2012 2012